RetNet:
Genes and Mapped Loci Causing Retinal Diseases

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Listed by chromosome:

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Total entries = 300. If you know the symbol but not the chromosome, please use the Symbols list to find a gene.


(Last updated August 27, 2015)


Chromosome 1

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
NPHP4, SLSN4;
606966, 606996, 607215
1p36.31 recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; protein: nephronophthisis 4 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; NPHP4 protein interacts with NPHP1 protein Mollet 02; Otto 02; Schuermann 02
NMNAT1, LCA9, PNAT1;
204000, 608553, 608700
1p36.22 recessive Leber congenital amaurosis; protein: nicotinamide nucleotide adenylyltransferase 1 [Gene] linkage mapping, whole-exome sequencing; a homozygous NMNAT1 mutation was found in the original, consanguineous, LCA9 Pakistani family and additional mutations found in many other LCA families; common findings include early-onset optic atrophy and neonatal degeneration of the central retina (colobomas); the NMNAT1 protein is a nuclear isoform of the rate-limiting enzyme in NAD+ synthesis and may serve a neuroprotective role Chiang 12; Falk 12; Keen 03; Koenekoop 12; Perrault 12
MFN2, CMT6, CMT2A2, MARF;
608507, 609260, 601152
1p36.22 dominant optic atrophy with neuropathy and myopathy; dominant Charcot-Marie-Tooth disease; protein: mitofusin 2 [Gene] candidate gene; dominant mutation in a large Turkish family; affected family members have early-onset optic atrophy and adult-onset neuropathy; dominant-acting MFN2 mutations are a common cause of CMT and hereditary motor and sensory neuropathy; MFN2 protein is involved in fusion of mitochondria and contributes to mitochondrial morphology and distribution Rouzier 12
EMC1  1p36.13 recessive retinitis pigmentosa; protein: ER membrane protein complex subunit 1 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous missense mutation in a multiplex Saudi RP family and the same homozygous mutation in an isolated Saudi RP patient; protein is a component of the endoplasmic reticulum with unknown function Abu-Safieh 13
PLA2G5;
601192
1p36.13-p36.12 recessive benign fleck retina; protein: phospholipase A2 group V [Gene] homozygosity mapping, whole-exome sequencing; homozygous mutation identified in a consanguineous family of South Asian origin; biallelic mutations found in additional families; symptoms include benign yellow-white retinal lesions or flecks with otherwise normal retinal findings; the PLA2G5 protein is a secretary phospholipase which plays a role in phagocytosis of photoreceptor outer segment discs by RPE cells Sergouniotis 11
DHDDS, RP59;
268000, 608172, 613861
1p36.11 recessive retinitis pigmentosa; protein: dehydrodolichyl diphosphate synthetase [Gene] homozygosity mapping, whole-exome sequencing; homozygous Lys42Glu mutation in an American family and 15 Israeli families of Ashkenazi Jewish origin; may account for 10% of recessive RP in Israel; the DHDDS gene is widely expressed, including in rod and cone photoreceptors; the protein is an enzyme in the dolichol synthesis pathway and dolichol is involved in biosynthesis of N-linked oligosaccharide chains on proteins such as rhodopsin; this mutation causes RP only but mutations in other genes affecting oligosaccharide synthesis cause multi-system disorders Haeuptle 09; Zelinger 11; Züchner 11
RPE65, LCA2, RP20;
180069, 204000, 204100
1p31.2 recessive Leber congenital amaurosis; recessive retinitis pigmentosa; dominant retinits pigmentosa with choroidal invlovlement; protein: retinal pigment epithelium-specific 65 kD protein [Gene] candidate gene; accounts for 2% of recessive RP and 6 to 16% of LCA; same as RPE65-/- Swedish Briard-Beagle dog; protein is necessary for production of 11-cis-vitamin A; 9-cis-retinal restores visual function in mouse model; successful gene therapy in dog; in same pathway as LRAT; dominant mutation in large Irish family with several members diagnosed with choroideremia Acland 01; Aguirre 98; Bowne 11; Gu 97; Hanein 04; Lotery 00; Marlhens 97; Morimura 98; Redmond 98; Van Hooser 00; Veske 99
ABCA4, ABCR, ARMD2, CORD3, RP19, STGD1;
120970, 153800, 248200, 601691, 601718, 603075, 604116
1p22.1 recessive Stargardt disease, juvenile and late onset; recessive macular dystrophy; recessive retinitis pigmentosa; recessive fundus flavimaculatus; recessive cone-rod dystrophy; protein: ATP-binding cassette transporter - retinal [Gene] linkage mapping, candidate gene; may be involved in age-related macular degeneration; same as ROS1.2 and rim protein, expressed in rod outer segment and foveal cones; ABCA4 mutation may increase severity of STGD3; flippase for all-trans retinal and N-retinylidene-PE Allikmets 97; Allikmets 97a; Allikmets 00; Cremers 98; Gerber 95; Gerber 98; Kaplan 93; Lewis 99; Martínez-Mir 97; Martínez-Mir 98; Maugeri 00; Molday 00; Nasonkin 98; Rozet 98; Stone 98; Sun 97; Sun 99; Weng 99; Zhang 99
RP32;
609913
1p21.2-p13.3 recessive retinitis pigmentosa, severe [Gene] linkage mapping; Pakistani family with early night blindness, complete loss of vision and macular degeneration Zhang 05
COL11A1, STL2;
120280, 154780, 604841
1p21.1 dominant Stickler syndrome, type II; dominant Marshall syndrome; protein: collagen, type XI, alpha 1 [Gene] linkage mapping, candidate gene; Stickler syndrome involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment; retinal findings are considered a consequence of vitreous abnormalities; see also COL2A1 and COL9A1 Annunen 99; Richards 96
GNAT2, ACHM4;
139340
1p13.3 recessive achromatopsia; protein: guanine nucleotide binding protein (G protein) cone-specifc transducin alpha subunit [Gene] candidate gene; total color blindness and other cone-related abnormalities (rod monochromacy); GNAT2 accounts for a minor fraction of achromatopsia cases whereas CNGA3 accounts for 20-30% and CNGB3 accounts for 40-50% Aligianis 02; Kohl 02
DRAM2, TMEM77;
613360
1p13.3 recessive macular dystrophy, early adult onset; protein: DNA-damage regulated autophagy modulator 2 [Gene] homozygosity mapping, whole-exome sequencing; homozygous or compound heterozygous mutations found in five unrelated Pakistani, Indian and European families with adult-onset retinal dystrophy and early macular involvement; the DRAM2 gene product is a widely-expressed, transmembrane protein which initiates autophagy, that is, degradation of cells and cellular components, and may play a role in photoreceptor disc recycling El-Asrag 15
PRPF3, HPRP3, PRP3, RP18;
601414, 607301
1q21.2 dominant retinitis pigmentosa; protein: pre-mRNA processing factor 3 [Gene] linkage mapping, candidate gene; English and Danish families; early onset night blindness; recurrent Thr494Met mutation; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF6, PRPF8 (RP13) and PRP31 (RP11) Chakarova 02; Heng 98; Xu 96a; Xu 98
SEMA4A, CORD10, SEMAB, RP35;
120970, 607292, 610282, 610283
1q22 dominant retinitis pigmentosa; dominant cone-rod dystrophy; protein: semaphorin 4A [Gene] candidate gene; several affected Pakistani families; semaphorins are a conserved family of proteins involved in neuronal development and/or immune response; SEMA4A is a transmembrane semaphorin (also called semaphorin B) which enhances T-cell activation; homozygous knockout mice have severe retinal degeneration Abid 06; Kumanogoh 02; Rice 04
CORD8;
120970, 605549
1q23.1-q23.3 recessive cone-rod dystrophy [Gene] linkage mapping; consanguineous Pakistani family Ismail 06; Khaliq 00
ATF6, ATF6A;
605537
1q23.3 recessive achromatopsia; protein: activating transcription factor 6 [Gene] homozygosity mapping, whole-exome sequencing; homozygous and compound heterozygous mutations in ATF6 have been identified in more than ten families with achromatopsia, including a consanguineous Pakistani family and an isolated case, suggesting this is a common cause of disease; achromatopsia is a congenital or early-onset cone dysfunction disorder; symptoms include color blindness, photophobia, nystagmus and reduced visual acuity; the ATF6 protein is a transmembrane transcription factor, involved in the unfolded protein response, which localizes throughout the neural retina and RPE Ansar 15; Kohl 15; Xu 15
HMCN1, ARMD1, FBLN6;
603075, 608548
1q25.3-q31.1 dominant macular dystrophy, age-related; protein: hemicentin 1 (fibulin 6) [Gene] linkage mapping, candidate gene; a Gln5345Arg mutation that segregates with disease in one family is the probable cause of ARMD1; possible association with AMD but CFH is the more likely reason for association; fibulins are extracellular matrix proteins with multiple EGF domains, others include EFEMP1 and FBLN5 Klein 98; Schultz 03; Weeks 01
CFH, ARMD4, ARMS1, HF1;
134370, 603075, 609814, 610698
1q31.3 age-related macular degeneration, complex etiology; recessive drusen, early-onset; protein: complement factor H [Gene] linkage mapping, association study; a common histidine allele at a polymorphic Tyr402His site in control module 7 of CFH increases the life-time risk of AMD 2-to-7 fold; extended haplotypes including other complement genes also contribute; CFH and/or the haplotypes probably account for the AMD linkage peak at this location; rare recessive mutations in CFH cause nephropathy and hemolytic-uremic syndrome; mutations in trans to the His 402 variant cause early-onset drusen; AMD is also associated with complement genes C2, CFB and C3 Boon 08; Edwards 05; Hageman 01; Hageman 05; Haines 05; Hughes 06; Klein 05; Rodríguez de Córdoba 04; Zareparsi 05
CRB1, LCA8, RP12;
204000, 600105, 604210, 613835
1q31.3 recessive retinitis pigmentosa with para-arteriolar preservation of the RPE (PPRPE); recessive retinitis pigmentosa; recessive Leber congenital amaurosis; dominant pigmented paravenous chorioretinal atrophy; protein: crumbs homolog 1 [Gene] linkage mapping; homologous to Drosophila crumbs protein, possibly involved in cell-cell interactions and cell polarity; homozygous or compound heterozygous mutations in 10 unrelated patients; causes 9 to 13% of LCA; symptoms may include Coats-like exudative vasculopathy; mutations result in thick retina with abnormal lamination den Hollander 99a; den Hollander 01; Hanein 04; Heckenlively 82; Jacobson 03; Leutelt 95; Lotery 01; Lotery 01a; McKay 05; van Soest 94
RD3, C1orf36, LCA12;
180040, 204000, 610612
1q32.3 recessive Leber congenital amaurosis; protein: RD3 protein [Gene] animal model, candidate gene; homozygous mutations in one LCA family; rd3 mouse has a recessive mutation in this gene which causes retinal degeneration with intact photoreceptors at birth but otherwise early onset and rapid progression; protein of unknown function Chang 93; Friedman 06
NEK2, NLK1, RP67;
268000, 604043, 615565
1q32.3 recessive retinitis pigmentosa; protein: NIMA (never in mitosis gene A)-related kinase 2 [Gene] whole-genome sequencing; a homozygous frameshift mutation detected in a Japanese RP patient and the same mutation (heterozygous) in a second patient; the NEK2 gene product is a widely-expressed ciliary-associated protein involved in cell division and implicated in several cancers; NEK2 is expressed in retina and inactivation in zebrafish results in photoreceptor defects Nishiguchi 13
FLVCR1, AXPC1;
609033, 609144
1q32.3 recessive retinitis pigmentosa with posterior column ataxia (PCARP); protein: feline leukemia virus subgroup C cellular receptor 1 [Gene] linkage mapping, sequencing; linkage mapping in a Dutch-German family and a Japanese family; PCARP is a rare, childhood-onset neurodegenerative syndrome involving spinal cord degeneration and RP; FLVR1 expression is most abundant in retina and secondarily in spinal cord and brain; function of the FLVCR1 protein is unknown but may involve heme/iron homeostasis Higgins 99; Ishiura 11; Rajadhyaksha 10
USH2A, RP39;
268000, 276901, 608400, 613809
1q41 recessive Usher syndrome, type 2a; recessive retinitis pigmentosa; protein: usherin [Gene] linkage mapping, candidate gene; usherin is a basement membrane protein, with laminin EGF and fibronectin type III domains, found in many tissues including capillary and structural basement membranes in retina and inner ear; causes 30 to 40% of USH type 2 and 10 to 15% of recessive RP; common ancestral c.2299delG mutation of European origin with atypical phenotype; Cys759Phe mutation found in 4 to 5% of recessive RP without hearing loss; an additional 51 exons have been identified; common c.4338delCT founder mutation in French Canadians and Acadians as is another in USH1C Bhattacharya 02; Ebermann 09a; Dreyer 01; Eudy 98; Kimberling 90; Kimberling 95; Lewis 90; Liu 99; Rivolta 00; Saouda 98; Seyedahmadi 04; van Wijk 04; Weston 00
SDCCAG8, BBS16, CCCAP, NPHP10, SLSN7;
266900, 613524, 613615
1q43 recessive nephronophthisis, ciliopathy-related; recessive Bardet-Biedl syndrome; protein: serologically-defined colon cancer antigen 8 [Gene] homozygosity mapping, whole-exome sequencing; 12 distinct mutations in 10 families; nephronophthisis-related ciliopathies involve dysplasia or degeneration of kidney, retina and/or cerebellum; BBS cases have early renal disease but not polydactyly; SDCCAG8 protein, first identified as a colon cancer antigen, localizes to centrioles and interacts with other ciliopathy-associated proteins including OFD1, and plays a broad role in kidney, retina and brain development Chaki 12; Otto 10; Schaefer 11
OR2W3  1q44 dominant retinitis pigmentosa; protein: olfactory receptor family 2 subfamily W member 3 [Gene] whole exome sequencing; a single-missense mutation identified in two independent Chinese families by exome sequencing; the OR2W3 gene product is in the olfactory receptor family but olfactory receptors have functions in addition to olfaction and ORF2 is expressed in multiple tissues including thyroid and RPE cells; the OR2W3 transcript overlaps with TRIM58, a larger gene of unknown function Ma 15

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Chromosome 2

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ZNF513, RP58;
268000, 613598, 613617
2p23.3 recessive retinitis pigmentosa; protein: zinc finger protein 513 [Gene] linkage mapping, candidate gene; mapping in a consanguineous Pakistani family; zinc finger genes are a large family of expression factors, many with unknown specificity; ZNF513 is expressed in the retina, including photoreceptors; knockdown in zebrafish affects eye morphology and leads to loss of photoreceptors suggesting a role in retinal development and maintenance Li 10; Naz 10
IFT172, NPHP17;
607386, 615630
2p33.3 recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: intraflagellar transport protein 172 [Gene] whole-exome sequencing; clinical consequences of mutations in IFT172 range from non-syndromic RP to Bardet-Biedl syndrome to complex skeletal, renal, hepatic, retinal and cerebellar syndromes (also called Jeune and Mainzer-Saladino syndromes); variable clinical phenotypes do not clearly correspond to different mutation types; the IFT172 protein is involved in intraflagellar transport and plays a role similar to other proteins involved in complex, highly variable ciliopathies Bujakowska 15
C2orf71, RP54;
268000, 613425, 613428
2p23.2 recessive retinitis pigmentosa; protein: chromosome 2 open reading frame 71 [Gene] homozygosity mapping, candidate gene; Dutch, Israeli and other consanguineous families; C2orf71 is an open reading frame within a gene coding for a novel protein with no known homology; the gene is highly expressed in retina, primarily in photoreceptors, and the protein localizes to primary cilia; morpholino knockdown in zebrafish produces visual defects; the C2orfF71 gene is highly variable complicating mutation screening; mutations in this gene cause progressive retinal atrophy, rcd4, in Gordon Setter and Irish Setter dogs; a mutation in C2orf71 may modify Usher syndrome caused by CEP250 Collin 10; Downs 12; Nishimura 10; Sergouniotis 10
EFEMP1, DHRD, MTLV, FBLN3;
126600, 601548
2p16.1 dominant radial, macular drusen; dominant Doyne honeycomb retinal degeneration (Malattia Leventinese); protein: EGF-containing fibrillin-like extracellular matrix protein 1 (fibulin 3) [Gene] linkage mapping, candidate gene; Arg345Trp mutation found in all affected individuals to date; normal protein is secreted from RPE but mutant protein is misfolded and retained in RPE; both proteins accumulate between the RPE and drusen, but not within drusen; possible model for age- related macular degeneration; fibulins are extracellular matrix proteins with multiple EGF domains, others include FBNL5 and FBLN6; knock-in mouse shows AMD phenotype Edwards 98; Héon 96; Héon 96a; Kermani 99; Fu 07; Gregory 96; Marmorstein 02; Stone 99
FAM161A, RP28;
268000, 606068, 613596
2p15 recessive retinitis pigmentosa; protein: family with sequence similarity 161 member A [Gene] homozygosity mapping, candidate gene; consanguineous Indian family, and Israeli and German families; FAM161A codes for a protein of unknown function expressed in retina, brain and testis, but largely localized to photoreceptors Bandah-Rozenfeld 10a; Gu 99; Kumar 04; Langmann 10
WDPCP, BBS15, FRITZ;
209900, 613580
2p15 recessive Bardet-Biedl syndrome; protein: WD repeat-containing planar cell polarity effector [Gene] candidate gene; homozygous mutation in one BBS family; heterozygous variants may act as modifiers of BBS and Meckel-Gruber syndrome; protein plays a role in planar cell polarity during embryogenesis and may affect ciliogenesis Kim 10
ALMS1, ALSS;
203800
2p13.1 recessive Alström syndrome; protein: ALMS1 protein [Gene] homozygosity and linkage mapping, candidate gene; symptoms include RP (cone-rod dystrophy), cardiomyopathy, obesity and diabetes (similar to BBS); gene identified in balanced chromosomal translocation; widely expressed gene with product of unknown function; possible model for age- related macular degeneration Collin 97; Collin 99; Hearn 02; Macari 98
CNGA3, ACHM2, CNCG3, RMCH2;
216900, 600053
2q11.2 recessive achromatopsia; recessive cone-rod dystrophy; protein: cone photoreceptor cGMP-gated cation channel alpha subunit [Gene] homozygosity mapping, candidate gene; total color blindness and other cone-related abnormalities (rod monochromacy); CNGA3 accounts for 20-30% of achromatopsia cases whereas CNGB3 accounts for uo to 50% and GNAT2 accounts for a minor fraction; most common cause of achromatopsia and CORD in Chinese Arbour 97; Kohl 98; Kohl 02; Li 14; Nishiguchi 05; Wissinger 98; Wissinger 01
SNRNP200, ASCC3L1, BRR2, HECIC2, RP33;
601664, 610359
2q11.2 dominant retinitis pigmentosa; protein: small nuclear ribonucleoprotein 200kDa (U5) [Gene] linkage mapping, candidate gene; Chinese families (one is the family in which RP33 was mapped), in addition to several European families; also known as activating signal cointegrator I complex subunit 3-like 1, the gene is widely expressed and codes for a splice-complex protein as do several other dominant RP genes Benaglio 11; Li 09; Zhao 09; Zhao 06
CNNM4, ACDP4, LOC619531;
217080, 607805
2q11.2 recessive cone-rod dystrophy and amelogenesis imperfecta syndrome; protein: cyclin M4 [Gene] linkage mapping, candidate gene; also called Jalili syndrome, with cone-rod dystrophy and amelogenesis imperfecta (abnormal tooth enamel and development); more than 7 independently-ascertained families including a consanguineous Arab family and a Kosovo family; cyclin M4 protein is involved in metal ion transport, with expression in neural retina and developing teeth suggesting a connection between tooth biomineralization and retinal function Downey 02; Jalili 89; Michaelides 04; Parry 09; Polok 09
MERTK, RP38;
268000, 604705, 613862
2q13 recessive retinitis pigmentosa; recessive rod-cone dystrophy, early onset; protein: c-mer protooncogene receptor tyrosine kinase [Gene] candidate gene; several affected families and a consanguineous Middle Eastern family; human ortholog of the mouse Mertk gene; causes defective phagocytosis of photoreceptor outer segments by the RPE and retinal degeneration in the RCS rat; successful gene therapy in rat; expressed in multiple tissues including RPE/sclera; a novel 91 bp deletion in MERTK accounts for 30% of RP cases in the Faroe Islands D'Cruz 00; Gal 00; Mackay 10; Ostergaard 11; Vollrath 01
NPHP1, JBTS4, SLSN1;
256100, 266900, 607100, 609583
2q13 recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; recessive Joubert syndrome; recessive Bardet-Biedl syndrome; protein: nephronophthisis 3 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; recurrent 290kb NPHP1 deletion in most nephronophthisis cases; NPHP1 protein interacts with NPHP3 and NPHP4 proteins Antignac 93; Caridi 98; Hildebrandt 97; Lindstrand 14; Mollet 02; Parisi 04; Saunier 97; Saunier 00
BBS5;
209900, 603650
2q31.1 recessive Bardet-Biedl syndrome; protein: flagellar apparatus-basal body protein DKFZp7621194 [Gene] linkage mapping, candidate gene; mutations found in several families with BBS mapped to 2q31; the BBS5 protein, identified by proteomics analysis of flagellar proteins, is a highly-conserved component of flagella and cilia, and may interact with BBS1; may account for 2% of BBS cases Beales 01; Li 04a; Young 99
CERKL, RP26;
608380, 608381
2q31.3 recessive retinitis pigmentosa; recessive cone-rod dystrophy with inner retinopathy; protein: ceramide kinase-like protein [Gene] linkage mapping, candidate gene; two Spanish families with the same homozygous mutation and families with other mutations; ceramide kinases are involved in neuronal cell survival and apoptosis; CERKL is expressed in retinal ganglion cells among other tissues; CERKL mutations cause widespread retinal degeneration with maculopathy; a founder splice-site mutation in CERKL accounts for 33% of recessive retinal degeneration cases among Yemenite Jews Aleman 09; Auslender 07; Bayés 98; Tuson 04
NEUROD1, MODY6;
601724, 606394
2q31.3 recessive retinitis pigmentosa; protein: neuronal differentiation protein 1 [Gene] whole-exome sequencing; a homozygous missense mutation identified in two siblings in a consanguineous Han Chinese family with non-syndromic retinitis pigmentosa; homozygous null mutations in NEUROD1 cause early onset diabetes, neurologic abnormalities and retinal degeneration; heterozygous mutations associated with type II diabetes; the NEUROD1 gene product is a widely-expressed neurotrophic factor Wang 15
(- - -)  2q33.1-q24.2 cone-rod dystrophy, dominant linkage mapping; French family with maximum lod score of 2.9; candidate genes in region excluded by sequencing Manes 11
TMEM237, ALS2CR4, JBTS14;
213300, 614423, 614424
2q33.1 recessive Jobert syndrome; protein: transmembrane protein 237 [Gene] homozygosity mapping, whole-exome sequencing; homozygous mutation in Canadian Hutterite families with Joubert syndrome and other mutations in additional families; symptoms of Joubert syndrome include RP, polydactyly and brain abnormalities; the TMEM237 protein localizes to the ciliary transition zone (TZ) in multiple tissues, including photoreceptors, is a component of a complex interaction network in the TZ, and plays a role in ciliogenesis, gastrulation and Wnt signaling Huang 11
KCNJ13, LCA16, SVD;
204000, 193230, 603208, 614186
2q37.1 dominant vitreoretinal degeneration, snowflake; recessive Leber congenital amaurosis; protein: inwardly-rectifying potassium channel subfamily J member 13 [Gene] linkage mapping, candidate gene; dominant vitreoretinal disease in an American family of European origin with developmental and progressive abnormalities affecting multiple tissues of the eye including early-onset cataracts, retinal deposits and retinal detachment; recessive LCA in two consanguineous families without other ocular abnormalities; protein is a member of the Kir family (Kir7.1) of inwardly-rectifying potassium channels often involved in maintaining resting membrane potential Hejtmancik 08; Jiao 04a; Lindstrand 14; Sergouniotis 11a
SAG, RP47;
181031, 258100, 268000
2q37.1 recessive Oguchi disease; recessive retinitis pigmentosa; protein: arrestin (s-antigen) [Gene] candidate gene; CSNB and fundus pallor in Japanese primarily; recessive RP in Japanese; see also GRK1 Fuchs 95; Maw 95; Nakazawa 98; Wada 96

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Chromosome 3

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
USH2B;
605472
not 3p24.2-p23 recessive Usher syndrome, type 2 [Gene] linkage exclusion; mapped to 3q in a consangeneous Tunisian family but later identified as a mutation in GPR98 Hmani 99; Hmani-Aifa 09; Pieke-Dahl 93
GNAT1, CSNBAD3;
139330, 310500, 610444
3p21.31 dominant congenital stationary night blindness, Nougaret type; recessive congenital stationary night blindness; protein: rod transducin alpha subunit [Gene] candidate gene; Gly38Asp mutation in a large French family; homozygous recessive mutation in a consanguineous Pakistani family; attenuates visual signaling and may affect taste perception Dryja 96; Maumenee-Hussels 96; Muradov 00; Naeem 12
LZTFL1, BBS17;
606568
3p21.31 recessive Bardet-Biedl syndrome with developmental anomalies; protein: leucine zipper transcription factor like-1 [Gene] homozygosity mapping, whole-exome sequencing; consanguineous family of Algerian descent; affected individuals have situs inversus and insertion polydactyly in addition to other BBS features; LZTFL1 protein is a negative regulator of the ciliary-associated BBS protein complex, the BBSome, and affects ciliary trafficking Marion 12; Seo 11
TREX1, AGS1, CHBL, CRV, RVCL;
192315, 225750, 606609, 610448
3p21.31 dominant retinal vasculopathy with cerebral leukodystrophy; dominant Aicardi-Goutiere syndrome 1, dominant chilblain lupus; protein: three-prime repair exonuclease 1 [Gene] linkage mapping, candidate gene; mapped in Dutch, Chinese and American families; retinal vasculopathy and cerebral leukodystrophy are progressive and have onset in middle age; TREX1 protein is a major 3'-5' DNA exonuclease that performs a proofreading function; symptoms of related disorders include microangiopathy, aneurysms and telangiectasia of retinal capillaries, often accompanied by numbness and cold sensitivity in fingers (Raynaud phenomenon), and CNS degeneration Grand 88; Jen 97; Ophoff 01; Richards 07
ATXN7, ADCA2, OPCA3, SCA7;
164500
3p14.1 dominant spinocerebellar ataxia w/ macular dystrophy or retinal degeneration; protein: ataxin 7 [Gene] linkage mapping, candidate gene; Moroccan, Belgian, French, Swedish, American and African-American families; shows anticipation with expanding CAG repeat in coding sequence of protein with unknown function; regional retinal dysfunction, cone-rod type Aleman 02; Benomar 95; David 97; Del Favero 98; Gouw 95; Holmberg 95
ARL6, BBS3, RP55;
209900, 268000, 608845, 613575
3q11.2 recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: ADP-ribosylation factor-like 6 [Gene] homozygosity and linkage mapping, candidate gene; Bedouin, Saudi, American and Canadian families; mild phenotype with normal IQ, reversible obesity and polydactyly of the feet only in many patients; BBS proteins, probably including ARL6, play roles in ciliary function, and homologous sequences are found in ciliated microorganisms; four siblings in a consanguineous Saudi Arabian family are homozygous for an ARL6 missense mutation but have RP only and no BBS findings Aldamesh 09; Beales 97; Beales 01; Chiang 04; Fan 04; Ingley 99; Jacobs 99; Sheffield 94; Woods 99; Young 98
IMPG2, RP56, SPARCAN;
268000, 607056, 613581
3q12.3 recessive retinitis pigmentosa; protein: interphotoreceptor matrix proteoglycan 2 [Gene] homozygosity mapping, candidate gene; mapping in a Dutch family and an Iraqi Jewish family with additional mutations in several populations; generally early onset RP but macuopathy in one case; protein is a component of the retinal intercellular matrix Bandah-Rozenfeld 10
IQCB1, NPHP5, SLSN5;
609237, 609254
3q13.33 recessive Senior-Loken syndrome; recessive Leber congenital amaurosis; protein: IQ motif containing B1 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; homozygous mutations also found in several LCA patients, some of whom, but not all, later developed kidney disease; IQCB1 protein interacts with RPGR and calmodulin proteins in photoreceptor connecting cilia Estrada-Cuzcano 11; Otto 05
RHO, CSNBAD1, OPN2, RP4;
180380, 268000, 310500, 610445
3q22.1 dominant retinitis pigmentosa; dominant congenital stationary night blindness; recessive retinitis pigmentosa; protein: rhodopsin [Gene] linkage mapping, candidate gene; accounts for 30 to 40% of autosomal dominant RP; more than 100 distinct mutations but RhoPro23His causes 10% of adRP in US Caucasians; 'RP4' withdrawn; naturally occurring Thr4Arg mutation in English Mastiff dog Dryja 90; Dryja 90a; Dryja 91; Dryja 93; Farrar 90a; Kijas 02; McWilliams 89; Nathans 84; Rosenfeld 92
NPHP3, SLSN3;
604387, 606995, 608002
3q22.1 recessive Senior-Loken syndrome; recessive nephronophthisis, adolescent; protein: nephronophthisis 3 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; NPHP3 protein interacts with NPHP1 protein; same gene affected in pcy mouse Olbrich 03; Omran 00; Omran 01; Omran 02
RP5  same as RHO not distinct from RHO/RP4 linkage mapping, mutation screening; mapping error; 'RP5' withdrawn Farrar 92
CLRN1, RP61, USH3, USH3A;
268000, 276902, 606397, 614180
3q25.1 recessive Usher syndrome, type 3; recessive retinitis pigmentosa; protein: clarin-1 [Gene] linkage mapping, candidate gene; clarin-1 is a novel, 4-transmembrane protein with a possible role in hair cell and photoreceptor synapses; accounts for 40% of Usher syndrome in Finland; possible digenic deafness with MYO7A; recessive RP with no hearing loss in two consanguineous Pakistani families Adato 99; Adato 02; Joensuu 01; Khan 11; Sankila 95
SLC7A14, RP68;
268000, 615720, 615725
3q26.2 recessive retinitis pigmentosa; protein: solute carrier family 7 member 14 [Gene] whole-exome sequencing; a homozygous SLC7A14 missense mutation detected in a Chinese RP family and additional missense mutations found in other Chinese families; mutations in SLC7A14 account for 2% of autosomal recessive RP in these patients; SLC7A14 is expressed in retina and the central nervous system; the gene product is a potential cationic transporter protein with an unknown ligand; zebrafish downregulation and a knockout mouse show a similar phenotype Jin 14
OPA1;
125250, 165500, 605290
3q29 dominant optic atrophy, Kjer type; dominant optic atrophy with sensorineural hearing loss; protein: OPA1 protein [Gene] linkage mapping, candidate gene; gene is widely expressed and abundant in retina; protein is a dynamin-related GTPase which localizes to mitochondria; OPA1 mutations cause 30 to 50% of dominant optic atrophy; disease may be a consequence of haploinsufficiency with reduced penetrance; a Utah OPA1 family has optic atrophy, sensorioneural hearing loss, ptosis and ophthalmoplegia, and polymorphic OPA1 alleles may be associated with normal tension glaucoma Alexander 00; Aung 02; Bonneau 95; Brown 97a; Delettre 00; Eiberg 94; Ferré 09; Johnston 97; Lunkes 95; Payne 04; Pesch 01; Seller 97; Toomes 01; Votruba 97; Votruba 98
PCYT1A;
123695
3q29 recessive cone-rod dystrophy with skeletal disease; protein: phosphate cytidylyltransferease 1 choline alpha [Gene] whole-exome sequencing; several simplex and multiplex recessive families identified with PCYT1A mutations; the disorder involves spondylometaphyseal dysplasia (SMD: short stature with vertebral and metaphyseal abnormalities) and CORD; other mutations cause muscular dystrophy without bone or retinal findings; the PCYT1A protein converts phosphocholine into cytidine diphosphate-choline, a key step in phosphatidylcholine synthesis Hoover-Fong 14; Yamamoto 14

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Chromosome 4

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
PDE6B, CSNB3, CSNBAD2, RP40;
163500, 180072, 268000, 310500, 613801
4p16.3 recessive retinitis pigmentosa; dominant congenital stationary night blindness; protein: rod cGMP phosphodiesterase beta subunit [Gene] linkage mapping, candidate gene; same as retinal degeneration in the rd1 mouse, rd10 mouse and rcd1 Irish Setter dog; accounts for 3 to 4% of recessive RP; photoreceptor rescue with calcium-channel blocker in mouse but not dog Altherr 92; Bateman 92; Bayés 95; Bowes 90; Chang 02; Collins 92; Farber 92; Frasson 99; Gal 94; Gal 94a; McLaughlin 93; McLaughlin 95; Pearce-Kelling 01; Piriev 98; Pittler 91; Pittler 93; Suber 93; Valverde 95; Weber 91
WFS1, DFNA38;
222300, 598500
4p16.1 recessive Wolfram syndrome; dominant low frequency sensorineural hearing loss; protein: wolframin [Gene] linkage mapping, candidate gene; symptoms of recessive disease include diabetes, optic atrophy and deafness; often associated with multiple mitochondrial deletions; symptoms of dominant disease include non-syndromic low frequency loss without profound deafness; distinct from WFS2 Barrientos 96; Barrientos 96a; Bespalova 01; Collier 96; Inoue 98; Polymeropoulos 94; Strom 98a; Young 01
HMX1;
142992, 612109
4p16.1 recessive oculoauricular syndrome; protein: H6 family homeobox protein 1 [Gene] homozygosity mapping, candidate gene; oculoauricular syndrome involves developmental abnormalities of the outer ear, ocular anterior segment and retina leading to retinal degeneration and loss of vision at an early age; two families, a Swiss family with a homozygous HMX1 deletion and a consanguineous Pakistani family with a homozygous missense mutation, have been reported; the HMX1 gene product plays an unknown role in embryogenesis Gillespie 15; Schorderet 08
RAB28, CORD18;
120970, 612994, 615374
4p15.33 recessive cone-rod dystrophy; protein: RAB28 member of RAS oncogene family [Gene] homozygosity mapping, whole-exome sequencing; German and Moroccan-Jewish families; symptoms include progressive cone-rod dystrophy, loss of visual function, hyperpigmentation of the macula and RPE atrophy, starting in childhood or teens; RAB28 proteins localize to the photoreceptor basal body and may be involved in ciliary transport Roosing 13
CC2D2A, JBTS9, MKS6;
216360, 612013, 612284, 612285
4p15.33 recessive retinitis pigmentosa and mental retardation; recessive Joubert syndrome; protein: coiled-coil and C2 containing 2A protein [Gene] homozygosity mapping, candidate gene; homozygous mutation in CC2D2A in a consanguineous Pakistani family with 5 retarded individuals, all with accompanying RP; the CC2D2A protein is widely expressed and may play a role in calcium-dependent signal transduction; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis; related diseases caused by recessive CC2D2A mutations include COACH syndrome and Meckel syndrome Gorden 08; Noor 08
PROM1, CORD12, MCDR2, PROML1, RP41, STGD4;
120970, 268000, 603786, 604365, 608051, 612095, 612657
4p15.32 recessive retinitis pigmentosa with macular degeneration; dominant Stargardt-like macular dystrophy; dominant macular dystrophy, bull's-eye; dominant cone-rod dystrophy; protein: prominin 1 [Gene] homozygosity mapping, candidate gene; British, Caribbean, Indian and Pakistani families; severe visual impairment with onset in childhood in recessive families; prominin is a 5-transmembrane glycoprotein associated with plasma membrane evaginations in rod outer segments; recurrent, dominant Arg377Cys (C→T) mutation in human families disrupts disk morphogenesis in mice Kniazeva 99; Maw 00; Michaelides 03; Yang 08a; Zhang 07
GPR125, PGR21, TEM5L;
612303
4p15.2 recessive retinitis pigmentosa; protein: G protein-coupled receptor 125 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in an isolated Saudi RP patient and a novel splice-site mutation in a second isolated Saudi RP patient; protein is a G protein-coupled receptor of unknown function Abu-Safieh 13
DTHD1  4p14 recessive Leber congenital amaurosis with myopathy; protein: death domain containing protein 1 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous single-nucleotide substitution affecting start of translation in a multiplex Saudi LCA family with mild-to-moderate muscle dystrophy; protein of unknown function Abu-Safieh 13
WDR19, ATD5, CED4, NPHP13, IFT144, PWDMP;
208500, 218330, 256100, 608151, 614376, 614378
4p14 recessive renal, skeletal and retinal anomalies; protein: WD repeat domain 19 protein [Gene] whole-exome sequencing; in addition to retinal anomalies (RP), recessive mutations in WDR19 cause a wide range of diseases and symptoms including asphyxiating thoracic dysplasia (Jeune syndrome), cranioectodermal dysplasia (Sensenbrenner syndrome) and nephronophthisis; the WDR19 protein is a member of the intraflagellar transport A complex involved in ciliary function Bredrup 11
CNGA1, CNCG, CNCG1, RP49;
123825, 268000, 613756
4p12 recessive retinitis pigmentosa; protein: rod cGMP-gated channel alpha subunit [Gene] candidate gene; nonsense, missense and deletion mutations in four RP families Dhallan 92; Dryja 95; Griffin 93
WFS2;
604928
4q22-q24 recessive Wolfram syndrome; dominant [Gene] homozygosity mapping, linkage mapping; symptoms include diabetes, optic atrophy and deafness; three Jordanian families; distinct from WFS1 El-Shanti 00
MTTP, ABL, MTP;
200100, 157147
4q23 recessive abetalipoproteinemia; protein: microsomal triglyceride transfer protein [Gene] candidate gene; multiple lipid abnormalities including pigmentary retinal degeneration Narcisi 95; Sharp 93; Shoulders 93
LRIT3, FIGLER4;
615004
4q25 recessive congenital stationary night blindness, complete; protein: leucine-rich repeat immunoglobulin-like transmembrane domains protein 3 [Gene] whole-exome sequencing; distinct compound heterozygous mutations in two isolated cases; function of the gene product is unknown but the protein localizes to the outer plexiform layer of the retina in a pattern similar to other CSNB proteins Zeitz 13
BBS7, BBS2L1;
209900, 607590
4q27 recessiveBardet Biedl syndrome; protein: BBS7 protein [Gene] candidate gene; homozygous mutations in several families; protein of unknown function with sequence similarity to BBS2 Badano 03
BBS12, FLJ35630;
209900, 610683
4q27 recessive Bardet-Biedl syndrome; protein: BBS12 protein [Gene] homozygosity mapping; mapping in Gypsy families and mutations in other families; the BBS12 gene is 1 mb from the BBS7 gene which was excluded by sequencing; protein has sequence similarity to other BBS genes and is a member of the type II chaperonin superfamily with possible ciliary function Stoetzel 07
PLK4, MCCRP2;
605031, 616171
4q28.2 recessive microcephaly, growth failure and retinopathy; protein: polo-like kinase 4 [Gene] linkage mapping, whole-exome sequencing; homozygous PLK4 mutations cause complex developmental disorders including microcephalic dwarfism, congenital anomalies and retinal degeneration in Pakistani and African families; the PLK4 protein is a key regulator of centriolar biogenesis and duplication, and phosphorylates TUBGCP6, mutations in which cause a similar phenotype Martin 14
RP29;
268000, 612165
4q32-q34 recessive retinitis pigmentosa [Gene] linkage mapping; consanguineous Pakistani family Hameed 01
LRAT, LCA14;
204000, 604863, 613341
4q32.1 recessive retinitis pigmentosa, severe early-onset; recessive Leber congenital amaurosis; protein: lecithin retinol acyltransferase [Gene] candidate gene; gene is expressed in RPE; protein catalyzes first step in visual cycle transforming vitamin A into 11-cis-retinol; same pathway as RPE65 Ruiz 99; Ruiz 01; Thompson 01; Xiao 11
TLR3;
603029
4q35.1 age-related macular degeneration, complex etiology; protein: toll-like receptor 3 [Gene] candidate gene, association study; based on the possible role of TLR4 in AMD, association was tested to a TLR3 Leu412Phe polymorphism (rs3775291) in AMD patients with geographic atrophy; the Phe allele was protective in the original and replicate samples; subsequent studies failed to confirm this finding; toll-like receptors recognize microorganisms and then initiate an immune response Allikmets 09; Edwards 09; Yang 08b
CYP4V2, BCD;
210370, 608614
4q35.2 recessive Bietti crystalline corneoretinal dystrophy; recessive retinitis pigmentosa; protein: cytochrome P450 4V2 [Gene] linkage mapping, candidate gene; symptoms include RP and glistening crystals in the retina, cornea and lymphocytes; more common in Asians; gene is a member of the cytochrome P450 superfamily, homologous to mouse CYP4V3; protein may play a role in fatty acid and steroid metabolism; one mutation, c.802-8_810del17insGC, accounts for 65% of alleles in Chinese patients; compound heterozygous mutations in CYP4V2 reported in a Chinese family with RP but no other findings of crystalline corneoretinal dystrophy Jiao 00; Li 04; Xiao 11; Wang 12

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Chromosome 5

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
MCDR3;
608850
5p15.33-p13.1 dominant macular dystrophy [Gene] linkage mapping; overlapping map locations in a British and a Danish family; clinically similar to North Carolina macular dystrophy, MCDR1 Michaelides 03a; Rosenberg 10
VCAN, CSPG2, ERVR, WGN1;
118661, 143200
5q14.3 dominant Wagner disease and erosive vitreoretinopathy; protein: chondroitin sulfate proteoglycan 2 (versican) [Gene] linkage mapping, candidate gene; intronic mutations in several families including the original Wagner family; disease may be a consequence of an imbalance in the ratio of normal splice variants; vitreoretinopathy alone (Brown 95) or with ocular abnormalities (Black 99a) are allelic; versican is a component of extracellular matrix in the vitreous and binds to hyaluronan and link protein to form aggregates which maintain structural integrity Black 99a; Brown 95; Kloeckener-Gruissem 06; Miyamoto 05; Mukhopadhyay 06
GPR98, FEB4, MASS1, USH2C, VLGR1;
602851, 604352, 605472
5q14.3 recessive Usher syndrome, type 2; dominant/recessive febrile convulsions; protein: monogenic audiogenic seizure susceptibility 1 homolog [Gene] linkage mapping, candidate gene; five unrelated families with mild RP and possible dental abnormalities but without seizures; protein is a very large cell-surface calcium-binding G protein-coupled receptor; same gene as in recessive Frings mouse with seizures from sudden noise, and humans with febrile seizures; originally believed limited to females, but in males too; USH2B family later assigned to GRP98 Ebermann 09; Hilgert 09; McMillan 02; Nakayama 02; Pieke-Dahl 00; Weston 04
NR2F1, EAR3;
132890, 615722
5q15 dominant optic atrophy with intellectual disability and developmental delay; protein: nuclear receptor subfamily 2 group F member 1 [Gene] deletion mapping, whole-exome sequencing; deletion mapping in patients with optic nerve atrophy, intellectual disability and developmental delay implicated NR2F1 and/or contiguous genes; de novo missense mutations and additional deletions establish NR2F1 as the case of this disorder; also known as "Bosch-Boonstra optic atrophy" or cerebral visual impairment; the NR2F1 protein is a widely-distributed nuclear receptor which modulates transcription in developing optic nerve and neural tissues Al-Kateb 13; Bosch 14
BSMD;
608970
5q21.2-q33.2 dominant macular dystrophy, butterfly-shaped linkage mapping; Dutch family; other butterfly dystrophy loci excluded; 52 Mb critical region den Hollander 04
HARS, HRS, USH3B;
614504, 142810
5q31.3 recessive Usher syndrome; protein: histidyl-tRNA synthetase [Gene] homozygosity mapping, whole-exome sequencing; homozygous Tyr454Ser mutations in a Mennonite (Plain) family in Pennsylvania and in an unrelated Old Order Amish family in Canada; the Tyr454Ser variant has an allele frequency of 1.5% in Old Order Amish; disease symptoms are consistent with Usher syndrome III but also include motor development delay, truncal ataxia and gait abnormalities; some affected children have infection-induced hallucinations (Charles Bonnet syndrome) and rare sudden death; the HARS protein is an enzyme which catalyzes the synthesis of histidyl-transfer RNA (his-tRNA); his-tRNA, in turn, is necessary for incorporation of histidine into proteins Puffenberger 12
PDE6A, RP43;
180071, 268000, 613810
5q33.1 recessive retinitis pigmentosa; protein: cGMP phosphodiesterase alpha subunit [Gene] candidate gene; homozygote and compound heterozygote mutations; causes 3 to 4% of recessive RP in North America; same as PRA in Cardigan Welsh corgi dog Dryja 99; Huang 95; Peterson-Jones 99; Pittler 90
GRM6, CSNB1B;
257270, 310500, 604096
5q35.3 recessive congenital stationary night blindness; protein: metabotropic glutamate receptor 6 [Gene] candidate gene; null mutations in patients with CSNB and defective cone ON ERG responses; distinctive, abnormal rod ERG response to 15 Hz flicker; GRM6 expression is restricted to cone ON bipolar cells and protein is a receptor for neurotransmitter glutamate released from rods and cones; mouse knockout shows absent ON response Dryja 05; Masu 95; Zeitz 05

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Chromosome 6

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
MAK, RP62;
154235, 268000, 614181
6p24.2 recessive retinits pigmentosa; protein: male germ-cell associated kinase [Gene] whole-exome sequencing; exome sequencing identified a homozygous Alu insertion in 21 independently-ascertained probands with recessive RP, all of Jewish ancestry; exome sequencing and cis-regulatory mapping identified nonsense and missense mutations in Turkish and Dutch RP families; MAK is expressed in multiple tissues including spermatogonia and retina; the protein is a kinase involved in regulation of retinal cilium and spermatogenesis Omori 10; Özgül 11; Stone 11; Tucker 11
C2;
217000
6p21.32 age-related macular degeneration, complex etiology; protein: complement component 2 [Gene] association study; C2 and CFB are contiguous genes within 500 bp of each other with multiple variants in high linkage disequilibrium; certain C2-CFB haplotypes significantly increase the risk of AMD and others are protective; both proteins have roles in innate immunity and inflammation; deficiency of C2 is associated with autoimmune disease; AMD is also associated with complement genes C3 and CHF Gold 06
CFB, BF, BFD;
138470
6p21.32 age-related macular degeneration, complex etiology; protein: complement factor B, properdin [Gene] association study; see C2 for details; properdin is a component of the alternate pathway for complement activation Gold 06
TULP1, LCA15, RP14;
204000, 600132, 602280, 613843
6p21.31 recessive retinitis pigmentosa; recessive Leber congenital amaurosis; protein: tubby-like protein 1 [Gene] linkage mapping, candidate gene; two Dominican families and others; protein localizes to developing and adult rods and cones; possibly involved in transport of rhodopsin from inner to outer segment; a similar gene in tub mouse causes obesity, deafness and retinal degeneration; the TULP1gene shares homology with the TUB gene associated with recessive retinal dystrophy and obesity Banerjee 98; Banerjee 98a; Gu 98; Hagstrom 98; Hagstrom 01; Hanein 04; Knowles 94; Milam 00
GUCA1A, COD3, CORD14, GCAP1;
120970, 602093, 600364
6p21.1 dominant cone dystrophy; dominant cone-rod dystrophy; protein: guanylate cyclase activating protein 1A [Gene] linkage mapping, candidate gene; British family with constitutively active mutant; variable phenotype within families Downes 01; Payne 97; Payne 98; Sokal 98
GUCA1B, GCAP2, RP48;
268000, 602275, 613827
6p21.1 dominant retinitis pigmentosa; dominant macular dystrophy; protein: guanylate cyclase activating protein 1B [Gene] candidate gene; Gly157Arg mutation in Japanese families with variable phenotype; no pathologic changes found in 400 British patients with dominant retinopathies Payne 99a; Sato 04
PRPH2, CACD2, LCA18, MDPT1, RDS, RP7, VMD3;
136880, 169150, 179605, 204000, 268000, 608133, 608161, 613105
6p21.1 dominant retinitis pigmentosa; dominant macular dystrophy; digenic RP with ROM1; dominant adult vitelliform macular dystrophy; dominant cone-rod dystrophy; dominant central areolar choroidal dystrophy; recessive LCA; protein: peripherin 2 [Gene] linkage mapping, candidate gene; dominant mutations but, in addition, heterozygote PRPH2 and ROM1 mutations cause digenic disease, and homozygous recessive missense mutations cause LCA or early onset RP; carrier parents of recessive LCA children with PRPH2 mutations are asymptomatic; accounts for 5% of dominant RP; same gene affected in the rd2 mouse; photoreceptor rescue in a mouse model; mutations in PRPH2 are the most clinically heterogeneous among genes causing inherited, non-syndromic retinal degeneration Ali 00; Arikawa 92; Boon 09; Chang 02; Connell 90; Connell 91; Dryja 97; Farrar 91; Felbor 97a; Jordan 92a; Kajiwara 91; Kajiwara 94; Khan 15; Nakazawa 94a; Travis 91; Travis 91a; Wang 13
BCAMD, MCDCA;
153870
6p12.3-q16 dominant macular dystrophy, benign concentric annular linkage mapping; Dutch family; suggestive evidence for a mutation in IMPG1 van Lith-Verhoeven 04
EYS, RP25, SPAM;
602772
6q12 recessive retinitis pigmentosa; protein: eyes shut/spacemaker (Drosophila) homolog [Gene] homozygosity mapping, linkage mapping, candidate gene; Spanish and Pakistani families; accounts for 10 to 20% of recessive RP in Spain and 12% in France, and is a common cause of RP in China; the EYS gene, one of the largest human genes (2.0 mb), codes for a 3,165 AA extracellular matrix protein; EYS is a composite of EGFL11 and Drosophila eys proteins and contains at least 21 EGF and 5 LamG domains; mutations in Drosophila eys cause structural abnormalities in rhabdomeres; gene missing or non-functional in some mammals, including mouse Abd El-Aziz 06; Abd El-Aziz 08; Abd El-Aziz 08a; Audo 10; Barragán 08; Collin 08; Khaliq 99; Ruiz 98
COL9A1;
120210
6q13 recessive Stickler syndrome; dominant multiple epiphyseal dysplasia (MED); protein: collagen, type IX, alpha-1 [Gene] candidate gene; Stickler syndrome (which is usually dominant) involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment; recessive COL9A1 mutations in one consanguineous family; see also COL2A1 and COL11A1 Van Camp 06
RIMS1, CORD7, RIM1;
120970, 603649, 606629
6q13 dominant cone-rod dystrophy; protein: regulating synaptic membrane exocytosis protein 1or rab3A-interacting molecule [Gene] linkage mapping, candidate gene; expressed in brain and photoreceptors; protein localizes to ribbon synapses and interacts with RAB3A, a protein that regulates synaptic vesicle exocytosis; claim of enhanced cognition in affected individuals Johnson 03; Kelsell 98; Kniazeva 99a; Sisodiya 07; Wang 97; Wang 00
MCDR1, NCMD, PBCRA1;
136550, 600790
6q14-q16.2 dominant macular dystrophy, North Carolina type; dominant progressive bifocal chorioretinal atrophy [Gene] linkage mapping; North Carolina, German, Belizean and British families; MCDR1 is clinically distinct from PBCRA (same locus) but similar to MCDR3 (different locus); current linkage interval is 3 cM (1.8 mb); no potential MCDR1 mutation found in IMPG1 Gehrig 98; Kelsell 95; Rabb 98; Sauer 97a; Small 92; Small 97; Small 99; Yang 08
IMPG1, SPARC;
153870, 600790, 602870
6q14.1 dominant macular dystrophy, vitelliform; recessive macular dystrophy, vitelliform; protein: interphotoreceptor matrix proteoglycan 1 [Gene] linkage mapping, candidate gene, whole-exome sequencing; an identical dominant missense mutation found in three European families and homozygous and compound heterozygous mutations found in two recessive families; an IMPG1 mutation may also account for dominant benign concentric annular macular dytrophy (BCAMD); the IMPG1 protein is a component of the photoreceptor extracellular matrix; mutations in other extracellular matrix proteins also cause vitelliform macular dystrophy, suggesting a common disease mechanism Gehrig 98; Manes 13; van Lith-Verhoeven 04
LCA5;
204000, 604537, 611408
6q14.1 recessive Leber congenital amaurosis; protein: lebercilin [Gene] homozygosity mapping, linkage mapping; Pakistani, American Old Order River Brethren, and European families with homozygous mutations in lebercilin, including the original LCA5 family; the LCA5 gene is widely expressed and abundant in retina; lebercilin localizes to photoreceptor connecting cilia, and other cilia and microtubules, and interacts with numerous ciliary proteins including OFD1; although LCA5 mutations might, theoretically, cause complex ciliopathies, null mutations affect the retina only den Hollander 07; Dharmaraj 00
ELOVL4, SCA34, ISQMR, STGD3;
133190, 600110, 605512, 614457
6q14.1 dominant macular dystrophy, Stargardt-like; recessive spinocerebellar ataxia; recessive ichthyosis, quadriplegia and retardation; protein: elongation of very long fatty acids protein [Gene] linkage mapping, candidate gene; large North American family with 5 bp deletion; protein is a photoreceptor-specific component of the fatty acid elongation system, consistent with suggested modifying role of ABCA4; mapping overlaps with CORD7; MCRD1 excluded; includes STGD2; recessive mutations cause spinocerebellar ataxia (SCA34) and/or ichthyosis and profound psychomotor retardation Aldahmesh 11; Cadieux-Dion 14; Edwards 01; Griesinger 00; Kniazeva 99a; Kniazeva 00; Lagali 00; Stefko 00; Stone 94; Zhang 99; Zhang 01
RP63;
268000, 614494
6q23 dominant retinits pigmentosa linkage mapping; linkage in an Indian family with a maximum two-point LOD score of 3.8 Kannabiran 12
AHI1, JBTS3;
608629, 608894
6q23.3 recessive Joubert syndrome; protein: Abelson helper integration site 1 [Gene] homozygosity and linkage mapping, candidate gene; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis Dixon-Salazar 04; Ferland 04; Lagier-Tourenne 04; Parisi 06
PEX7, PTS2R, RCDP1;
215100, 266500, 601757
6q23.3 recessive Refsum disease, adult form; protein: peroxisome biogenesis factor 7 [Gene] linkage mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PHYH and PXMP3 Braverman 97; Motley 97; Purdue 97; van den Brink 03
RCD1;
180020
6q25-q26 dominant retinal-cone dystrophy 1 [Gene] deletion mapping OMIM 15

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Chromosome 7

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
MDDC, CYMD;
153880
7p21-p15 dominant macular dystrophy, cystoid [Gene] linkage mapping; distinct from RP9 Inglehearn 94a; Kremer 94
KLHL7, RP42;
268000, 611119, 612943
7p15.3 dominant retinitis pigmentosa; protein: kelch-like 7 protein (Drosophila) [Gene] linkage mapping, candidate gene; six independent families; accounts for 1 to 2% of autosomal dominant RP cases; the locus is outside of the RP9 linkage region; KLHL7 is a member of the BTB-Kelch superfamily (containing a series of Drosophila protein motifs) and plays a role in the ubiquitin-proteasome pathway leading to protein degradation Friedman 09
RP9, PAP1, PIM1K;
180104, 607331
7p14.3 dominant retinitis pigmentosa; protein: RP9 protein or PIM1-kinase associated protein 1 [Gene] linkage mapping, candidate gene; mutations in PAP1 may cause the RP9 form of RP but there is doubt - the original His137Leu "mutation" may be a paralogous variant (concurrent sequence from a gene and a pseudogene) and no additional mutations have been reported to segregate with disease; PAP1 is a widely-expressed gene; protein has a role in pre-mRNA splicing and interacts with a U2-complex splice factor Inglehearn 93; Inglehearn 94b; Inglehearn 98; Keen 95; Keen 02; Kim 95; Maita 04; Sullivan 06
BBS9, PTHB1;
209900, 607968
7p14.3 recessive Bardet Biedl syndrome; protein: parathyroid hormone-responsive B1 protein [Gene] homozygosity mapping, candidate gene; several small, consanguineous families; identified by a combination of mapping, comparative genomic analysis and gene expression studies; expression is down regulated by PTH but function of protein is unknown Nishimura 05
PEX1, IRD;
202370, 214100, 266510, 602136
7q21.2 recessive Refsum disease, infantile form; protein: peroxisome biogenesis factor 1 [Gene] candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX7, PHYH and PXMP3 Portsteffen 97; Reuber 97
TSPAN12, EVR5, NET2;
133780, 613310, 613138
7q31.31 dominant familial exudative vitreoretinopathy; protein: tetraspanin 12 [Gene] linkage mapping, whole-exome sequencing, candidate gene; linkage mapping in large Dutch families, also homozygous knockout mouse model; TSPAN12 is a member of the tetraspanin transmembrane 4 superfamily; common cause of FEVR; TSPAN12, FZD4, LRP5 and NDP proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Junge 09; Nikopoulos 10; Poulter 10
IMPDH1, LCA11, RP10;
146690, 204000, 180105, 613837
7q32.1 dominant retinitis pigmentosa; dominant Leber congenital amaurosis; protein: inosine monophosphate dehydrogenase 1 [Gene] linkage mapping, candidate gene; Spanish, Scottish and American families; IMPDH1 is one of two widely-expressed isoforms in humans; IMPDH's are highly-conserved enzymes, found in bacteria and eukaryotes, which catalyzes the rate-limiting step in de novo guanine synthesis; a common IMPDH1 mutation, Asp226Asn, is at a site conserved in all species and accounts for at least 2% of all dominant RP; mutations affect polynucleotide binding (e.g., to rhodopsin mRNA) by the CBS domains but not enzyme activity Bowne 02; Bowne 06; Daiger 97; Jordan 93; Kennan 02; McGuire 95; McGuire 96; Millán 95; Mohamed 96; Mortimer 05; Mortimer 08
OPN1SW, BCP, CBT;
190900
7q32.1 dominant tritanopia; protein: blue cone opsin [Gene] candidate gene; several mutations; progressive retinopathy not observed Fitzgibbon 94; Nathans 86; Nathans 92; Nathans 93; Weitz 92; Weitz 92a
KIAA1549;
613344
7q34 recessive retinitis pigmentosa; protein: KIAA1549 protein [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in a multiplex Saudi RP family; protein of unknown function Abu-Safieh 13

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Chromosome 8

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
RP1L1;
608581
8p23.1 dominant occult macular dystrophy; recessive retinitis pigmentosa; protein: retinitis pigmentosa 1-like protein 1 [Gene] linkage mapping, candidate gene; mapping and sequencing candidate genes in Japanese families with occult macular dystrophy (OMD) revealed a missense mutation in three families and a second mutation in a fourth family; OMD involves central cone dysfunction and loss of vision with a normal-appearing retina; other RP1L1 variants are associated with a wide range of symptoms including retinitis pigmentosa alone; RP1L1 and RP1 proteins are 35% identical and interact with photoreceptor connecting cilia; the RP1L1 gene is highly variable complicating mutation screening Akahori 10; Bowne 03; Conte 02; Davidson 13a; Yamashita 09
ADAM9, CORD9, MCMP, MDC9;
120970, 602713, 612775
8p11.23 recessive cone-rod dystrophy; protein: ADAM metallopeptidase domain 9 (meltrin gamma) protein [Gene] linkage mapping, candidate gene; four consanguineous families including the original Brazilian CORD9 family; early onset in humans with loss of peripheral and central vision; widely expressed gene; homozygous knockout mouse has mild retinopathy and no other overt symptoms; ADAM9 protein is involved in cell-matrix interactions and acts as an adhesion molecule binding integrins; OMD involves central cone dysfunction and loss of vision with a normal-appearing retina; RP1L1 and RP1 proteins are 35% identical and interact with photoreceptor connecting cilia Danciger 01; Parry 09a; Weskamp 02
HGSNAT, MPS3C, TMEM76;
252930, 610453
8p11.21 recessive retinitis pigmentosa, non-syndromic; recessive mucopolysaccharidosis; protein: heparan-alpha-glucosaminide N-acetyltransferase [Gene] whole-exome sequencing; recessive mutations in HGSNAT were first identified in patients with type IIIC mucopolysaccharidosis, also called Sanfilippo syndrome C, with symptoms of severe central nervous system degeneration and retinal dystrophy; recessive mutations were found subsequently in patients with RP but without neurologic disease or other symptoms; the HGSNAT protein, also called N-acetyltransferase, acetylates heparin and heparan sulfate in lysosomes and is abundant in retina; Sanfilippo syndrome is a classic lysosomal storage disease affecting neurologic tissues Haer-Wigman 15
RP1, ORP1;
180100, 603937
8q12.1 dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: RP1 protein [Gene] linkage mapping, candidate gene; causes 5 to 10% of adRP; large Kentucky family and others; highly variable expression; two common mutations, Arg677X and 2280del4; protein is photoreceptor-specific, with similarity to doublecortin, and localizes to connecting cilia; homozygous insertions and deletions in Pakistani families; mutations in a similar gene, RP1L1, also cause retinal disease; common recessive Ser542X founder mutation in Spanish patients Avila-Fernandez 12; Blanton 91; Bowne 99; Daiger 97; Guillonneau 99; Jacobson 00; Khaliq 05; Liu 02; Pierce 99; Riazuddin 05; Roderick 97; Sadler 93; Sullivan 99; Xu 96
TTPA;
600415
8q12.3 recessive retinitis pigmentosa and/or recessive or dominant ataxia; protein: alpha-tocopherol-transfer protein [Gene] candidate gene; TPA mutations found in patients with vitamin E deficiency Yokota 96
CSPP1;
611654, 213300, 249000
8q13.1-q13.2 recessive Jobert syndrome; protein: centrosome and spindle pole associated protein 1 [Gene] whole-exome sequencing; multiple families identified with Joubert syndrome, Meckel-Gruber syndrome and/or other highly-variable ciliopathy findings caused by recessive mutations in CSPP1; mutations in CSPP1 may account for up to 5% of Joubert syndrome cases; possible symptoms include skeletal dysplasias, asphyxiating thoraic dystrophy, brain abnormalities and retinal dystrophy; the CSPP1 protein, like other Joubert syndrome proteins, interacts with the spindle apparatus in dividing cells, and with primary cilia in liver, kidney and retinal cells Akizu 14; Shaheen 14; Tuz 14
OPA6, ROA1;
165500, 258500
8q21-q22 recessive optic atrophy [Gene] linkage mapping; large, multiplex, consanguineous French family Barbet 03
PEX2, PAF1, PMP35, PXMP3;
170993, 214100, 266510
8q21.13 recessive Refsum disease, infantile form; protein: peroxisomal membrane protein 3 [Gene] candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PEX7 and PHYH Gartner 92; Shimozawa 92
CNGB3, ACHM3, RMCH1;
216900, 248200, 262300, 605080
8q21.3 recessive achromatopsia Pingelapese; recessive, progressive cone dystrophy; protein: cone cyclic nucleotide-gated cation channel beta 3 subunit [Gene] linkage mapping, candidate gene; symptoms include total color blindness, photophobia and nystagmus; European and American families, and 4-10% of Pingelapese on the Eastern Caroline Islands; protein generates cone electrical response; common 1148delC mutation; CNGB3 accounts for up 50% of achromatopsia cases whereas CNGA3 accounts for 20-30% and GNAT2 accounts for a minor fraction; same as cd in Alaskan Malamute and German Pointer dogs; ACHM1 family reassigned to CNGB3 Kohl 00; Kohl 02; Kohl 05; Michaelides 04a; Milunsky 99; Nishiguchi 05; Pentao 92; Sidjanin 02; Sundin 00; Winick 99
C8orf37, CORD16, RP64;
120970, 268000, 614477, 614500
8q22.1 recessive cone-rod dystrophy; recessive retinitis pigmentosa with early macular involvement; protein: chromosome 8 open reading frame 37 [Gene] homozygosity mapping, whole-exome sequencing; homozygous mutation in an Israeli family and additional homozygous mutations in other families, original mutation has an allele frequency of greater than 1% in Israelis of Druze origin; the C8otf37 protein, of unknown function, localizes to the base of cilia in retinal photoreceptors and RPE cells Estrada-Cuzcano 12a; van Huet 13
GDF6, CDMP2, KFS1, LCA17;
204000, 601147, 613703, 613094, 615360
8q22.1 recessive Leber congenital amaurosis; dominant Klippel-Feil syndrome; dominant microphthalmia; protein: growth differentiation factor 6 [Gene] candidate gene; missense mutations in GDF6 cause dominant Klippel-Feil syndrome with abnormal cervical vertebrae, other congenital abnormalities and hearing loss, with or without microphthalmia; compound heterozygous missense mutations identified in an LCA patient without additional symptoms, and heterozygous missense mutations found in other LCA patients; GDF6 codes for a widely-expressed growth factor in the TGF-β pathway specifying the dorsal-ventral retinal axis Asai-Coakwell 13
VMD1;
153840
not 8q24 dominant macular dystrophy, atypical vitelliform [Gene] linkage exclusion; linked to GPT but later excluded Daiger 97; Ferrell 83; Leach 96; Sohocki 97

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Chromosome 9

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
KCNV2, RCD3B;
607604, 610356
9p24.2 recessive cone dystrophy with supernormal rod electroretinogram; protein: potasium channel subfamily V member 2 [Gene] homozygosity mapping, candidate gene; mutations in several unrelated families; symptoms include progressive visual loss with supernormal ERG response to a bright flash of light - suggesting an abnormal potassium current in photoreceptor inner segments; protein (also called Kv11.1) is expressed in rods and cones and must coassemble with other subunits to form an active voltage-gated potassium channel Ottschytsch 02; Wu 06
TOPORS, LUN, P53BP3, RP31;
609507, 609923
9p21.1 dominant retinitis pigmentosa; protein: topoisomerase I binding arginine/serine rich protein [Gene] linkage mapping, candidate gene; RP31 mapped in a French Canadian family, TOPORS mutations also found in European families; early symptoms include a perivascular cuff of RPE atrophy surrounding the superior and inferior retinal arcades, later progressing to diffuse pigmentary retinopathy; TOPORS protein is widely expressed and localizes to the basal body of connecting cilia in photoreceptors; morpholino silencing in zebrafish affects retinal development Chakarova 07; Chakarova 11; Papaioannou 05
MIR204;
610942
9q21.12 recessive retinal dystrophy with iris coloboma; protein: micro RNA 204 [Gene] linkage mapping, whole-exome sequencing; a heterozygous nucleotide substitution found in a five-generation British family with dominant retinal degeneration and bilateral iris coloboma (holes); miR-204 is a small micro RNA which plays a role in vertebrate eye development and photoreceptor maintenance; the mutation affects miRNA-204 targeting, and knockouts in a medaka fish model replicate findings in humans Conte 15
INVS, NPHP2;
243305, 602088
9q31.1 recessive Senior-Loken syndrome; recessive nephronophthisis; protein: inverson [Gene] homozygosity mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; a deletion of this gene produces reversal of left-right polarity (situs inversus) and kidney disease in the inv mouse Haider 98; Mochizuki 98; Morgan 98; Otto 03; O'Toole 06
PRPF4, RP70;
607795, 615922
9q32 dominant retinitis pigmentosa; protein: pre-mRNA processing factor 4 [Gene] targeted-capture next-generation sequencing; a heterozygous PRPF4 missense mutation and a regulatory deletion were identified in a dominant RP family and an isolated case, respectively; the PRPF4 protein is a member of the U4/U6-U5 splice complex which includes several other proteins causing dominant RP; a functional null mutation in PRPF4 suggests haploinsufficiency as a disease mechanism Chen 14; Linder 14
DFNB31, USH2D, WHRN;
607084, 607928, 611383
9q32 recessive Usher syndrome, type 2; recessive deafness without retinitis pigmentosa; protein: whirlin [Gene] linkage mapping, candidate gene; recessive mutations in deaf wi (whirler) mouse and in humans with profound prelingual deafness; rare cause of recessive deafness and RP; gene product is a PDZ scaffold protein expressed in hair cells and photoreceptors; mutations causing retinal disease are in the long protein isoform Ebermann 07; Mburu 03; Mustapha 02
TRIM32, BBS11, HT2A;
209900, 254110, 602290
9q33.1 recessive Bardet-Biedl syndrome; recessive limb-girdle muscular dystrophy; protein: tripartite motif-containing protein 32 [Gene] homozygosity mapping, candidate gene; small consanguineous Israeli Bedouin family; protein is an E3 ubiquitin ligase; antisense (morpholino) knockdown of gene in zebrafish produces a phenotype similar to other BBS gene knockdowns; missense mutations in TRIM32 are also associated with limb-girdle muscular dystrophy type 2H (LGMD2H) Chiang 06; Fridell 95; Frosk 02
TLR4, ARMD10;
603030, 603075, 611488
9q33.1 age-related macular degeneration, complex etiology; protein: toll-like receptor 4 [Gene] linkage mapping, association study; linkage mapping indicated an AMD locus at this site and a polymorphic Asp299Gly amino acid substitution in TLR4 showed association with life-time risk of AMD in Caucasians; a subsequent study did not replicate this finding; toll-like receptors recognize microorganisms and then initiate an immune response; TLR4 produces a widely-expressed transmembrane protein which recognizes lipopolysaccharide from Gram-negative bacteria; the Gly allele is protective against atherosclerosis; see also TLR3 Edwards 08; Zareparsi 05a
RP8, RP21;
500004
not 9q34-qter dominant retinitis pigmentosa with sensorineural deafness [Gene] linkage mapping; later mapped to MT-TS2 in mitochondrion; 'RP21' withdrawn Kenna 97; Mansergh 99
INPP5E, CORS1, JBTS1;
213300, 610156
9q34.3 recessive Joubert syndrome; recessive MORM syndrome; protein: inositol polyphosphate-5-phosphatase E [Gene] linkage mapping, candidate gene; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis; MORM is similar to Bardet-Biedl syndrome; the INPP5E gene is widely expressed; the protein stabilizes primary cilia through regulation of phosphatidylinositol in conjunction with phosphotidylinositol kinases Bielas 09; Jacoby 09; Saar 99

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Chromosome 10

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
PHYH, PAHX, RDPA;
266500, 600964, 602026
10p13 recessive Refsum disease, adult form; protein: phytanoyl-CoA hydroxylase [Gene] homozygosity mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PEX7 and PXMP3 Jansen 97; Jansen 97a; Mihalik 97; Nadal 95
ACBD5  10p12.1 recessive cone-rod dystrophy with psychomotor delay; protein: acyl-CoA binding domain containing protein 5 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in a multiplex Saudi family with CORD and white matter disease; protein binds co-enxyme A with unknown function Abu-Safieh 13
USH1K  10p11.21-q21.1 recessive Usher syndrome, type 1k linkage mapping; genome-wide linkage mapping in a consanguineous Pakistani family with type 1 Usher syndrome localized the disease locus to chromosome 10 with a two-point lod score of 3.8; the locus overlaps with PCDH15 (USH1F) but sequencing uncovered no mutations; also overlaps with DFNB33 Jaworek 12
RBP3, IRBP, RP66;
180290, 268000
10q11.22 recessive retinitis pigmentosa; protein: retinol binding protein 3, interstitial [Gene] homozygosity mapping, candidate gene; a homozygous mutation in an inbred family, otherwise a rare cause of recessive RP; RBP3 protein binds and transports retinoids in the interphotoreceptor matrix between the RPE and photoreceptors; transgenic knockout mice have rod and cone structural abnormalities, and produce reduced ERG amplitudes with recovery following 9-cis-retinal treatment den Hollander 09; Liou 98; Parker 09; Valverde 98
ERCC6, ARMD5;
133540, 214150, 278800, 603075, 609413
10q11.23 age-related macular degeneration, complex etiology; Cockayne syndrome, recessive; protein: excision repair cross-complementing rodent repair deficiency complementation group 6 protein [Gene] candidate gene, association study; a flanking SNP in ERCC6 increases life-time risk of AMD only slightly, but in interaction with the CFH Tyr402His polymorphism increases risk substantially; homozygous mutations cause xeroderma pigmentosa or complex developmental disorders; protein is involved in DNA nucleotide excision repair Tuo 06
RNANC;
221900
10q21 recessive nonsyndromal congenital retinal nonattachment [Gene] homozygosity mapping; 1% prevalence in isolated Iranian population Ghiasvand 98; Ghiasvand 00
PCDH15, DFNB23, USH1F;
276900, 601067, 602083, 605514, 609533
10q21.1 recessive Usher syndrome, type 1f; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with CDH23; protein: protocadherin 15 [Gene] homozygosity mapping, candidate gene; mapping in an inbred Hutterite family, mutations in Pakistani families; distinct from USH1D; same as mouse waltzer (av) with balance and hearing loss only; protein localizes to stereocilia in inner-ear hair cells and to photoreceptors; digenic Usher syndrome with CDH23 suggested by a heterozygous knockout mouse Ahmed 01; Ahmed 03; Alagramam 01; Alagramam 01a; Wayne 97; Zheng 04
HK1;
142600, 235700, 605285
10q22.1 dominant retinitis pigmentosa; recessive nonspherocytic hemolytic anemia, recessive hereditary neuropathy (Russe); protein: hexokinase 1 [Gene] linkage mapping, whole-exome sequencing; a missense mutation, Glu847Lys, was identified in a large Louisiana family with dominant RP and in four other unrelated dominant RP families from Louisiana, Canada and Sicily; one family member homozygous for the mutation has severe, early-onset RP; heterozygotes are more mildly affected; the mutation tracks with an uncommon haplotype of 450 kb suggesting an ancient founder event; hexokinase 1 catalyzes phosphorylation of glucose to glucose-6-phosphate; recessive null mutations are associated with hemolytic anemia and neuropathy, symptoms not observed in the RP families Sullivan 14; Wang 14
CDH23, DFNB12, USH1D;
276900, 601386, 601067, 605516
10q22.1 recessive Usher syndrome, type 1d; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with PCDH15; protein: cadherin-like gene 23 [Gene] homozygosity mapping, candidate gene; CDH23 is expressed in retina and cochlea; cadherins are intercellular adhesion proteins; same as v waltzer deafness mouse; consanguineous Cuban, Indian, Pakistani and Turkish families; may cause 56% of Usher syndrome and 5% of recessive nonsyndromic deafness; digenic Usher syndrome with PCDH15 suggested by a heterozygous knockout mouse Astuto 02; Bolz 01; Bork 01; Di Palma 01; Wayne 96; Zheng 04
CDHR1, CORD15, PCDH21, RP65;
120970, 268000, 609502, 613660
10q23.1 recessive cone-rod dystrophy; protein: cadherin-related family member 1 (protocadherin 21) [Gene] homozygosity mapping, candidate gene; distinct homozygous 1 bp deletions in two consanguineous Middle Eastern families; disease-causing variants were not detected in CDHR1 in an independent survey of patients with recessive retinopathies; CDHR1 protein is a member of the cadherin superfamily of calcium-dependent cell-cell adhesion factors, largely photoreceptor specific, involved in disc development; additional consanguineous Faroe Island family Bolz 05; Henderson 10; Ostergaard 10
RGR, RP44;
268000, 600342, 613769
10q23.1 recessive retinitis pigmentosa; dominant choroidal sclerosis; protein: RPE-retinal G protein-coupled receptor [Gene] candidate gene; protein is rhodopsin homolog found in RPE and Müller cells exclusively but, in inverse of rhodopsin, binds all-trans retinal which light converts to 11-cis retinal Chen 96; Morimura 99a
KIF11, EG5, HK5P, KNSL1, MCLMR, TRIP5;
148760, 152950
10q23.33 dominant microcephaly, lymphedema and chorioretinopathy; protein: kinesin family member 11 [Gene] whole-exome sequencing; multiple affected families, some with chorioretinopathy, some without; the KIF11 protein (also called EG5) forms a homotetramer kinesin motor involved in mitotic spindle assembly and function Ostergaard 12
RBP4;
180250
10q23.33 recessive RPE degeneration; protein: retinol-binding protein 4 [Gene] candidate gene; RPE atrophy with night blindness and reduced visual acuity; carrier protein for serum retinol Seeliger 99
PDE6C, ACHM5, COD4, PDEA2;
600827, 613093
10q23.33 recessive cone dystrophy, early onset; recessive complete and incomplete achromatopsia; protein: cGMP-specific cone phosphodiesterase 6C alpha prime protein [Gene] homozygosity mapping, candidate gene; homozygous mutations in four families, two with cone dystrophy and two with achromatopsia (absent cones and/or color vision); several additional heterozygous mutations in other patients; PDE6C protein is a component of cone cGMP phosphodiesterase which plays a central role in cone phototransduction Thiadens 09
PAX2, ONCR;
120330, 167409
10q24.31 dominant renal-coloboma syndrome; protein: paired homeotic gene 2 protein [Gene] candidate gene; optic nerve colobomas with renal abnormalities; similar malformations in Pax2(1Neu) mouse mutation Favor 96; Sanyanusin 95; Sanyanusin 95a
PDZD7, PDZK7;
612971
10q24.31 recessive non-syndromic deafness; protein: PDZ domain 7 containing protein [Gene] chromosomal translocation; homozygous chromosomal translocation breakpoint in the PDZK7 gene in an 8 year old child with hearing loss but no retinal disease; included as a likely Usher syndrome gene (not in Summaries); gene interacts with DFNB31 and USH1C proteins; may modify other Usher mutations Schneider 09
BBIP1, BBIP10, BBS18;
613605
10q25.2 recessive Bardet-Biedl syndrome; protein: BBSome interacting protein 1 [Gene] whole-exome sequencing; homozygous stop mutation in an isolated BBS case, no other BBS gene mutations detected; protein is a member of the BBSome complex Scheidecker 13
CORD17  10q26 dominant cone-rod dystrophy linkage mapping; linkage mapping in a Romani Gypsy family with a maximum LOD score of 3.3 Kamenarova 12
ARMS2, ARMD8, LOC387715;
603075, 611313
10q26.13 age-related macular degeneration, complex etiology; protein: hypothetical protein with Entrez ID 387715 [Gene] association study, candidate gene; a SNP (rs10490924), within LOC387715 in a region on 10q linked to AMD, has the second highest association with AMD of neighboring SNPs, but whether LOC387715 is a functioning gene is disputed; the SNP encodes a possible serine risk allele (Ala69Ser); an LOC387715 transcript is found in many tissues including retina; the predicted gene product is a hypothetical protein of unknown function; the LOC387715-HTRA1 associated SNPs are 6 kb apart Jakobsdottir 05; Rivera 05
HTRA1, ARMD7, PRSS11;
602194, 603075, 610149
10q26.13 age-related macular degeneration, complex etiology; protein: HtrA serine peptidase 1 [Gene] association study, candidate gene; a SNP (rs11200638), which is 512 bp 5' of HTRA1 in a region on10q linked to AMD, has the highest association with AMD of neighboring SNPS; the risk allele may enhance expression; the HTRA protein is a serine protease that degrades insulin-like growth factors; the protein is present in AMD drusen and may regulate degradation of extracellular matrix; the HTRA1-LOC387715 associated SNPs are 6 kb apart Canfield 07; DeWan 06; Hu 98; Yang 06
OAT;
258870
10q26.13 recessive gyrate atrophy; protein: ornithine aminotransferase [Gene] candidate gene; many mutations reported Valle 00

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Chromosome 11

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ZNF408  11p11.2 dominant familial exudative vitreoretinopathy; recessive retinitis pigmentosa with vitreal alterations; protein: zinc finger protein 408 [Gene] linkage mapping, whole-exome sequencing; missense and frame-shift mutations in ZNF408 were first identified in Dutch families with dominant familial exudative vitreoretinopathy (FEVR); symptoms of FEVR include retinal neovascularization, vitreous exudates and hemorrhage, and retinal detachment; subsequently, homozygous mutations were identified in a Spanish family and an isolated case with RP and vitreal abnormalities but without FEVR; the ZNF408 protein is a zinc-finger transcription factor involved in retinal development and maintenance Avila-Fernandez 15; Collin 13
TUB;
601197
11p15.4 recessive retinal dystrophy and obesity; protein: tubby bipartite transcription factor [Gene] homozygosity mapping, whole-exome sequencing; a homozygous frame-shift mutation identified in a consanguineous child with obesity, night blindness and rod cone dystrophy; recessive mutations in the homologous gene causes similar findings in the "tubby" (tub) mouse and the rd5 mouse with hearing loss; the TUB gene shares homology with the TULP1 gene causing recessive RP and LCA Chang 02; Dev Borman 13
TEAD1, AA, TCF13, TEF1;
108985, 189967
11p15.3 dominant atrophia areata; protein: TEA domain family member 1 [Gene] linkage mapping, candidate gene; also known as Sveinsson peripapillary chorioretinal degeneration, helicoid, with symmetrical lesions radiating from the optic disc; large Icelandic family; protein enhances transcription in the retina and other tissues Fossdal 95; Fossdal 04
USH1C, DFNB18;
276900, 276904, 602092, 605242
11p15.1 recessive Usher syndrome, Acadian; recessive deafness without retinitis pigmentosa; protein: harmonin [Gene] linkage mapping, candidate gene; harmonin is a PDZ-containing protein expressed in inner ear sensory hair cells; contiguous gene syndrome includes deafness, hyperinsulinism and enteropathy; possibly same gene affected in rd5 mouse; nonsyndromic deafness may involve alternately spliced isoforms unique to inner ear; common c.216G>A founder mutation in French Canadians and Acadians as is another in USH2A Ahmed 02; Ayyagari 95; Bitner-Glindzicz 00; Ebermann 07a; Heckenlively 95; Keats 94; Noun 93; Nouri 94; Ouyang 02; Smith 92; Verpy 00
EVR3;
133780, 605750
11p13-p12 dominant familial exudative vitreoretinopathy [Gene] linkage mapping; large Scottish family Downey 01
CORS2, JBTS2;
608091
11p12-q13.3 recessive Joubert syndrome [Gene] linkage mapping; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis Keeler 03; Valente 03; Valente 05
BEST1, RP50, TU15B, VMD2;
153700, 268000, 607854, 613194
11q12.3 dominant macular dystrophy, Best type; dominant vitreoretinochoroidopathy; recessive bestrophinopathy; recessive retinitis pigmentosa; dominant retinitis pigmentosa; protein: bestrophin 1 [Gene] linkage mapping, candidate gene; retina-specific expression; protein localizes to the basolateral plasma membrane of the RPE and functions as a transmembrane oligmeric chloride channel; lipofuscin accumulation may be secondary to abnormal ion flux; 1 to 2% of AMD cases may have late-onset BEST mutations; dominant vitreoretinochoroidopathy includes ocular developmental abnormalities whereas biallelic (compound heterozygote) mutations cause a characteristic retinal disorder, "bestrophinopathy"; same as cmr dog model; clinical consequences of bestrophin mutations are highly variable! Burgess 08; Davidson 09; Forsman 92; Graff 94; Guziewicz 07; Lotery 00a; Marmorstein 00; Marquardt 98; Nichols 94; Petrukhin 98; Stone 92a; Sun 02; Wadeilus 93; Weber 93; Weber 94a; Weber 94c; Yardley 04; Zhaung 93
ROM1;
180721
11q12.3 dominant retinitis pigmentosa; digenic retinitis pigmentosa with PRPH2; protein: retinal outer segment membrane protein 1 [Gene] candidate gene; rare dominant mutations; in addition, heterozygote ROM1 and PRPH2 (RDS) mutations cause digenic disease; USH1H is a digenic form of Usher syndrome Bascom 92; Bascom 92a; Bascom 93; Bascom 93a; Bascom 95; Dryja 97; Kajiwara 94; Martínez-Mir 97a; Nichols 94; Sakuma 95
BBS1;
209900, 209901
11q13 recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: BBS1 protein [Gene] linkage mapping, candidate gene; accounts for approximately 40% of BBS families; a ubiquitously-expressed gene of unknown function but with weak similarity to BBS2; a common Met390Arg mutation can cause classic Bardet-Biedl symptoms in some patients and non-syndromic retinitis pigmentosa alone in others; evidence does not support triallelic inheritance with BBS2, BBS4 or MKKS Beales 97; Bruford 97; Cornier 95; Estrada-Cuzcano 12; Katsanis 99; Katsanis 01; Leppert 94; Mykytyn 02; Woods 99; Young 99a
CABP4, CSNB2B;
310500, 608965, 610427
11q13.1 recessive congenital stationary night blindness; recessive congenital cone-rod synaptic disease; recessive Leber congenital amaurosis; protein: calcium binding protein 4 [Gene] animal model, candidate gene, homozygosity mapping; recessive CSNB mutations in two families and LCA in a third consanguineous Bedouin family; expression of CABP4 is limited to retina; protein localizes to photoreceptor synaptic terminals and may modulate voltage-dependent calcium channels; Cabp4-null mice have a phenotype similar to CSNB; mutations in patients reduce transcript levels to 30 to 40% of normal; the CSNB diagnosis is disputed Aldahmesh 10; Haeseleer 04; Khan 13; Littink 09; Zeitz 06
LRP5, EVR4, HBM, OPPG;
133780, 259770, 601813, 601884, 603506
11q13.2 dominant familial exudative vitreoretinopathy; dominant high bone mass trait; recessive osteoporosis-pseudoglioma syndrome; recessive familial exudative vitreoretinopathy; protein: low density lipoprotein receptor-related protein 5 [Gene] linkage mapping, candidate gene; Asian consanguineous family and others; dominant high bone mass subjects have no ocular findings, dominant FEVR patients have low bone mass, recessive osteoporosis patients have severe ocular developmental disorders; LRP5, FZD4, NDP and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Jiao 04; Price 96; Toomes 04; Toomes 04a
CAPN5, ADNIV, HTRA3, VRNI;
602537, 193235
11q13.5 dominant neovascular inflammatory vitreoretinopathy; protein: calpain 5 [Gene] linkage mapping, candidate gene; mutations found in three families; dominant neoovascular inflammatory vitreoretinopathy is an autoimmune disorder with progressive symptoms similar to uveitis, RP and diabetic retinopathy; disease locus (VRNI) was originally mapped in 1992; calpains are calcium-dependent cysteine proteases involved in signal transduction; CAPN5 is expressed in photoreceptors Mahajan 12; Stone 92
MYO7A, DFNB2, USH1B;
276900, 276903, 600060
11q13.5 recessive Usher syndrome, type 1b; recessive congenital deafness without retinitis pigmentosa; recessive atypical Usher syndrome (USH3-like); protein: myosin VIIA [Gene] linkage mapping, candidate gene; MY07A is an unconventional myosin, a component of cilia and microvilli, found in several tissues including inner ear hair cells, photoreceptors and RPE; same gene affected in sh1 shaker-1 mouse (but no RP) and mariner zebrafish; possible digenic deafness with USH3A; MYO7A functions as an actin-based motor protein involved in opsin transport in photoreceptors, RPE phagocytosis, and transport and localization of melanosomes in RPE cells Adato 97; Adato 99; Bonné-Tamir 94; El-Amraoui 96; Ernest 00; Gibbs 03; Gibbs 04; Gibson 95; Kelley 97; Kimberling 92; Lévy 97; Liu 97; Liu 97a; Liu 97b; Liu 98; Liu 99a; Smith 92; Weil 95; Weil 97; Weston 95; Weston 96; Wolfrum 98
TMEM126A, OPA7;
165500, 612988, 612989
11q14.1 recessive non-syndromic optic atrophy; protein: transmembrane protein 126A [Gene] homozygosity mapping, sequencing; Arg55ter mutation in a large inbred Algerian family and other families from the region; transmembrane mitochondrial protein of unknown function, consistent with role of mitochondria in optic neuropathy Hanein 09; Meyer 10
FZD4, EVR1, FEVR;
133780, 604579
11q14.2 dominant familial exudative vitreoretinopathy; protein: frizzled-4 Wnt receptor homolog [Gene] linkage mapping, candidate gene; Criswick-Schepens syndrome; distinct from VRNI; protein is a 7 transmembrane-spanning member of the Wnt (Drosophila wingless) pathway; FZD4, LRP5, NDP and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Li 92; Li 92a; Müller 94; Robitaille 02
CEP164, NPHP15;
256100, 614845, 614848
11q23.3 recessive nephronophthisis with retinal degeneration; protein: 164kDa centrosomal protein [Gene] whole-exome sequencing; four families with homozygous mutations; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and retinal dystrophy; one of a large class of ciliary and centrosomal ciliopathies affecting kidney, brain and retinal cells; CEP164 protein is involved in DNA damage response Chaki 12
C1QTNF5, CTRP5;
605670, 608752
11q23.3 dominant macular dystrophy, late onset; dominant macular dystrophy with lens zonules; protein: C1q and tumor necrosis-related protein 5 collagen [Gene] linkage mapping, candidate gene; common mutation (Ser163Arg) found in 7 of 14 families with late-onset retinal degeneration (L-ORD), a possible model for AMD; C1QTNF5 protein is a small collagen secreted by RPE, a possible constituent of Bruch's membrane; another missense mutation is associated with a complex ocular phenotype including lens zonules Ayyagari 05; Hayward 03
MFRP, NNO2;
606227, 609549
11q23.3 recessive microphthalmos and retinal disease syndrome; recessive nanophthalmos; protein: membrane-type frizzled-related protein [Gene] animal model, candidate gene; syndrome includes posterior microphtalmos, RP, foveoschisis, and optic disc drusen; nanophthalmos involves abnormal growth of the eye resulting in extreme hyperopia without retinal disease; the rd6 mouse has an Mfrp mutation; frizzled-related proteins play complex roles in cell development and maintenance Ayala-Ramirez 06; Kameya 02; Sundin 05

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Chromosome 12

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
CACNA2D4, RCD4;
608171, 610478
12p13.33 recessive cone dystrophy; protein: calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Gene] animal model, candidate gene; one affected homozygous sibship; protein is a subunit of a voltage-gated L-type calcium channel complex in photoreceptor ribbon synapses; first identified in a spontaneous, homozygous mouse model with retinopathy similar to CSNB; gene is widely expressed Qin 02; Wycisk 06; Wycisk 06a
PDE6H, RCD3A;
610024, 601190
12p12.3 recessive achromatopsia, incomplete; protein: phosphodiesterase 6H,cGMP-specific, cone, gamma [Gene] candidate gene; a homozygous Ser12X mutation in PDE6H from a common ancestor was found in Dutch and Belgium families; an earlier report of a heterozygous mutation in patients with cone dystrophy was not supported by subsequent studies; PDE6H protein is expressed in all cone photoreceptors although patients have preserved short-wavelength cone function Kohl 12; Piri 05
COL2A1, AOM, STL1;
108300, 120140, 132450, 609508
12q13.11 dominant Stickler syndrome, type I; dominant bone dysplasias, developmental disorders, osteoarthritic diseases, and syndromic disorders; protein: collagen, type II, alpha 1 [Gene] linkage mapping, candidate gene; mutations in COL2A1 cause a broad range of dominant diseases including Stickler syndrome, type 1,; symptoms differ substantially between individuals and may be limited to retinal or vitreoretinal findings alone, such as rhegmatogenous retinal detachment; see also COL9A1 and COL11A1; Stickler syndrome involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment Francomano 87; Go 03; Lee 89; Snead 99
CODA1;
611543
12q13.13-q14.3 dominant cavitary optic disc anomalies linkage mapping; a maximum LOD score of 4.1 in one US family of Russian origin; affected individuals have optic nerve head anomalies including optic pits, coloboma and "morning glory" anomaly, with serous macular detachments and macular disease, but normal intraocular pressures Fingert 07; Honkanen 07
RDH5, RDH1;
136880, 601617
12q13.2 recessive fundus albipunctatus; recessive cone dystrophy, late onset; protein: 11-cis retinol dehydrogenase 5 [Gene] candidate gene; stationary night blindness with subretinal spots and delayed dark adaptation; protein is an RPE microsomal enzyme involved in converting 11-cis retinol to 11-cis retinal; extremely delayed rod and cone resensitization in null mutation; same pathway as RDH11 and RDH12 Cideciyan 00; Nakamura 00; Simon 96; Yamamoto 99
BBS10, FLJ23560;
209900, 610148
12q21.2 recessive Bardet-Biedl syndrome; protein: BBS10 (C12orf58) chaperonin [Gene] linkage mapping, candidate gene; large, consanguineous Lebanese family; protein is a putative group II chaperonin; antisense (morpholino) knockdown of gene in zebrafish affects gastrulation movements which is consistent with hypothesis that BBS proteins are involved in planer cell polarity Stoetzel 06; White 07
CEP290, BBS14, JBTS5, LCA10, NPHP6, MKS4, SLSN6;
204000, 610142, 610188, 610189, 611134, 611755
12q21.32 recessive Senior-Loken syndrome; recessive Joubert syndrome; recessive Leber congenital amaurosis; recessive Meckel syndrome; protein: centrosomal protein 290 kDa [Gene] homozygosity and linkage mapping, candidate gene; CEP290 mutations cause at least 20% of LCA, with a single predominant mutation, c.2991+1655A->G; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or LCA; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; homozygous CEP290 mutations in the rd16 mouse and rdAc Abyssian cat; CEP290 protein associates with microtubule proteins in centrosomes and cilia, including the rod connecting cilium; additional symptoms include anosmia (abnormal sense of smell) Baala 07; Chang 06; den Hollander 06; Frank 07; Leitch 08; McEwen 07; Menotti-Raymond 07; Sayer 06; Valente 06
POC1B, CORD20;
120970, 614784, 615973
12q21.33 recessive cone-rod dystrophy; recessive Joubert syndrome; protein: POC1 (proteome of centriole 1) centriolar protein B [Gene] linkage and homozygosity mapping, whole-exome sequencing; a homozygous Arg106Pro mutation was identified in consanguineous Turkish and Iraqi families with non-syndromic cone or cone-rod dystrophy, or with Leber congenital amaurosis, Joubert syndrome and polycystic kidney disease, respectively; different compound heterozygous mutations found in an additional patient with CORD; the POC1B protein localizes to the primary cilium in photoreceptors and knockdown in zebrafish results in abnormal ocular development and retinal degeneration Beck 14; Durlu 14; Roosing 14
MVK;
251170, 260920, 610377, 175900
12q24.11 recessive retinitis pigmentosa; recessive mevalonic aciduria; recessive hyper-IgD syndrome; protein: mevalonate kinase [Gene] whole-exome sequencing; compound heterozygote and homozygous Dutch patients; recessive MVK mutations often cause complex inborn errors of metabolism resulting in mevalonic aciduria, hyper-IgD syndrome and, possibly, porokeratosis, a skin disease; the Dutch RP patients have mild mevalonic aciduria but no other patent extra-ocular symptoms Siemiatkowska 13
C12orf65, COXPD7, SPG55;
613541, 613559, 615035
12q24.31 recessive spastic paraplegia, neuropathy and optic atrophy; protein: chromosome 12 open reading frame 65 [Gene] linkage mapping, whole-exome sequencing; recessive C12orf65 mutations identified in several consanguineous families with variable, early onset, spastic paraplegia, neuropathy and optic atrophy (SPG55) and/or combined oxidative phosphorylation deficiency (COXPD7); the C12orf65 protein is a nuclear-encoded mitochondrial matrix protein involved in mitochondrial protein synthesis Shimazaki 12; Tucci 13

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Chromosome 13

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ITM2B, ABRI;
117300, 176500, 603904
13q14.2 dominant retinal dystrophy; dominant dementia, familial; protein: integral membrane protein 2B [Gene] whole-exome sequencing; a missense mutation identified segregating in a large family with inner retinal dysfunction and ganglion cell abnormalities but normal cerebral functioning; protein elongation mutations found in families with dominant dementia and cerebral amyloid angiopathy; protein of unknown function which localizes to retinal inner nuclear and ganglion cell layers Audo 13
RB1;
180200
13q14.2 dominant germline or somatic retinoblastoma; benign retinoma; pinealoma; osteogenic sarcoma; protein: retinoblastoma protein 1 [Gene] deletion mapping, candidate gene; requires 'second hit' loss of heterozygosity; 5 to 10% inherited, 20 to 30% new mutation, remainder sporadic; preferential loss of maternal chromosome; protein is cell-cycle regulatory element Dryja 89; Francke 76; Friend 86; Knudson 71; Lee 87; Lohmann 96; Mancini 94; Sparkes 83; Toguchida 93
GRK1, RHOK, RK;
180381, 258100
13q34 recessive congenital stationary night blindness, Oguchi type; protein: rhodopsin kinase [Gene] candidate gene; several mutations in Japanese; see also SAG Cideciyan 98; Khani 98; Maw 98; Yamamoto 97
STGD2;
153900
not 13q34 dominant macular dystrophy, Stargardt type linkage mapping, candidate gene; large American family, later remapped to ELOVL4 on 6q11 Zhang 94; Zhang 01

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Chromosome 14

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ACHM1, RMCH;
216900
not 14 recessive rod monochromacy or achromatopsia [Gene] uniparental isodisomy; total color blindness or 'day blindness'; mutations later identified in CNGB3 Pentao 92
RP16  not 14 recessive retinitis pigmentosa linkage mapping; withdrawn by senior author; 'RP16' withdrawn Bruford 94
MCDR4  14q11.2 dominant macular dystrophy, North Carolina-like with progressive sensorineural hearing loss [Gene] linkage mapping; English family Francis 03
RPGRIP1, CORD13, LCA6;
120970, 204000, 605446, 608194, 613826
14q11.2 recessive Leber congenital amaurosis; recessive cone-rod dystrophy; protein: RP GTPase regulator-interacting protein 1 [Gene] candidate gene; mutations in 4 to 6% of patients; RPGRIP1 protein interacts with RPGR, with species-specific colocalization (rod and cone outer segments in humans, connecting cilia in mice); high sequence similarity to RPGRIP1L; suggestion of same gene in the cord1 longhaired dachshund dog but later discounted Boylan 00; Dryja 01; Hameed 03; Hanein 04; Hong 01; Kuznetsova 12; Mavlyutov 02; Mellersh 06; Roepman 00
NRL, RP27;
162080, 613750
14q11.2 dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: neural retina lucine zipper [Gene] linkage mapping, candidate gene; NRL is a retinal transcription factor which interacts with CRX, promotes transcription of rhodopsin and other retinal genes, and is required for rod photoreceptor development; recessive disease includes clumped pigmentary degeneration and preserved blue cone function Bessant 99; Farjo 97; Mears 01; Nishiguchi 04a; Rehemtulla 96; Swaroop 92; Yang-Feng 92
OTX2;
600037, 610125
14q22.3 dominant Leber congenital amaurosis and pituitary dysfunction; recessive microphthalmia; protein: orthodenticle homeobox 2 protein [Gene] candidate gene; de novo mutation in a boy with early onset retinal dystrophy and pituitary dysfunction including failure to thrive, poor feeding and growth hormone deficiency; recessive mutations in OTX2 cause microphthalmia and cerebral abnormalities; OTX2 protein is a member of the bicoid family of homeodomain transcription factors expressed in brain and involved in retinal and ocular development Henderson 09
RDH11;
607849
14q24.1 recessive retinitis pigmentosa, syndromic; protein: retinol dehydrogenase 11 (all-trans/9-cis/11-cis) [Gene] whole-exome sequencing; compound heterozygous frame-shift mutations identified in an Italian-American family with recessive RP and facial dysmorphology, developmental delay, and short stature; the RDH11 protein is a widely-expressed enzyme with a role in oxidizing 11-cis-retinol to 11-cis-retinal in the visual cycle, a role similar to RDH5 and RDH12 Xie 14
RDH12, LCA13, RP53;
204000, 268000, 608830, 612712
14q24.1 recessive Leber congenital amaurosis with severe childhood retinal dystrophy; dominant retinitis pigmentosa; protein: retinol dehydrogenase 12 [Gene] homozygosity mapping, candidate gene, linkage mapping; French families and consanguineous Austrian families; symptoms include severe progressive rod-cone dystrophy and macular atrophy; may account for 4% of recessive LCA; protein is involved in visual cycle and has unusual dual specificity for all-trans-retinols and cis-retinols; same pathway as RDH5 and RDH11; also a large North Carolina family with a dominant mutation Fingert 08; Haeseleer 02; Janecke 04; Perrault 04
TTLL5, CORD19, STAMP;
120970, 612268, 615860
14q24.3 recessive cone and cone-rod dystrophy; protein: tubulin tyrosine ligase-like family member 5 [Gene] whole-exome sequencing; homozygous and compound heterozygous mutations found in four unrelated families, primarily of European origin, with "cone first" retinal dystrophy; the TTLL5 gene product is a tubulin glutamylase implicated in polyglutamylation of primary photoreceptor cilia and sperm flagellar function, thus this is an additional retinal ciliopathy Sergouniotis 14
SPATA7, HSD3, LCA3;
204000, 268000, 604232, 609868
14q31.3 recessive Leber congenital amaurosis; recessive RP, juvenile; protein: spermatogenesis associated protein 7 [Gene] homozygosity mapping, sequencing; Saudi Arabian, Dutch and other families including original LCA3 family; the SPATA7 protein is found in spermatocytes and multiple retinal layers; not a ciliary protein Stockton 98; Wang 09; Zhang 03
USH1A, USH1;
276900
not 14q32 recessive Usher syndrome, French [Gene] linkage mapping; original mapping in French families was questioned later; at least seven of ten USH type I families from the region have mutations in MY07A Gerber 06; Kaplan 91; Larget-Piet 94
TTC8, BBS8, RP51;
209900, 268000, 608132, 613464
14q32.11 recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: tetratricopeptide repeat domain 8 [Gene] candidate gene; TTC8 protein includes a prokaryotic domain, pilF, involved in pilus formation, localizes to ciliated structures such as the connecting cilium in photoreceptors, and interacts with PCM1, a protein involved in ciliogenesis; thus BBS proteins play a role in basal body - ciliary function; multiple BBS8 families, one with random left-right body axis symmetry; non-syndromic recessive RP in a consanguineous Pakistani family Ansley 03; Goyal 15; Riazuddin 10
FBLN5, ARMD3;
603075, 604580, 608895
14q32.12 familial macular dystrophy, age-related; protein: fibulin 5 [Gene] candidate gene; missense changes found in 1.7% of AMD patients, presumed to be dominant acting; fibulins are extracellular matrix proteins with multiple EGF domains, others include EFEMP1 and FBLN6 Stone 04

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Chromosome 15

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
TRPM1, CSNB1C, MLSN1;
310500, 603576, 613216
15q13.3 recessive congenital stationary night blindness, complete; protein: transient receptor potential cation channel, subfamily M, member 1 (melastatin) [Gene] animal model, candidate gene; TRPM1 was originally identified as the cause of recessive CSNB and coat color abnormalities in Appaloosa horses; frequent cause of CSNB in isolated, consanguineous and multiplex cases; affected individuals have myopia and reduced central vision but normal skin pigmentation; TRPM1 protein mediates transient Ca+ flux in retinal ON bipolar cells initiating the signaling cascade resulting in the light-evoked response of the inner retina Audo 09; Bellone 08; Li 09a; van Genderen 09
TUBGCP4, MCCRP3;
609610, 616335
15q15.3 recessive chorioretinopathy and microcephaly; protein: tubulin gamma complex-associated protein 4 [Gene] whole exome sequencing; compound heterozygous mutations found in three families with microcephaly, chorioretinopathy and other variable ocular findings including "punched out" retinal lesions; the families share a synonymous variant which induces exon skipping; the TUBGCP4 protein is involved in microtubule nucleation and organization, and contributes to brain and eye development Scheidecker 15
USH1H;
276900, 612632
15q22-q23 recessive Usher syndrome, type 1 [Gene] linkage; linkage mapping in two Pakistani families (one later shown to have CIB2 mutations) with a maximum two-point LOD score of 5.7, and linkage in a Dutch family with Usher syndrome and congenital cataract Ahmed 09; Dad 10
SLC24A1, CSNB1D, NCKX, RODX;
310500, 603617, 613830
15q22.31 recessive congenital stationary night blindness; protein: solute carrier family 24 (sodium/potassium/calcium exchanger) member 1 [Gene] linkage mapping, candidate gene; homozygous mutations in a large multi-generation Pakistani family; the SLC24A1 gene is expressed in multiple retinal tissues by postnatal day 7 in mice; the gene product is a member of the solute carrier protein family and may affect intracellular calcium levels in retina; an earlier survey failed to find mutations in patients with retinitis pigmentosa Riazuddin 10a; Sharon 02
NR2E3, ESCS, PNR, RP37;
268000, 268100, 604485, 611131
15q23 recessive enhanced S-cone syndrome (ESC); recessive retinitis pigmentosa in Portuguese Crypto Jews; recessive Goldmann-Favre syndrome; dominant retinitis pigmentosa; combined dominant and recessive retinopathy; protein: nuclear receptor subfamily 2 group E3 [Gene] candidate gene; symptoms include increased blue sensitivity, night blindness and retinal degeneration consistent with increased density/sensitivity of blue (S wavelength) cones, a novel gain-of-function disorder; may include clumped pigmentary retinal findings; protein is a ligand-dependent transcription factor; same gene affected in the rd7 mouse; recurrent Gly56Arg mutation causes dominant RP; a recessive mutation in trans to the Gly56Arg mutation causes ESC Chang 02; Coppieters 07; Escher 09; Gerber 00; Gire 07; Haider 00; Haider 01; Kobayashi 99; Kaplan 99; Sharon 03
MRST;
602685
15q24 recessive retardation, spasticity and retinal degeneration [Gene] linkage mapping; inbred Pakistani family Mitchell 98
BBS4;
209900, 600374
15q24.1 recessive Bardet-Biedl syndrome; protein: BBS4 protein [Gene] homozygosity and linkage mapping, candidate gene; approximately 3 to 6% of BBS families; protein similar to O-linked N-acetylglucosamine transferases involved in signal transduction in plants and animals; involved in triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele Beales 97; Bruford 97; Carmi 95; Katsanis 01; Katsanis 02; Mykytyn 01
CIB2, DFNB48, KIP2, USH1J;
605564, 609439, 614869
15q25.1 recessive Usher syndrome, type 1J; protein: calcium and integrin binding family member 2 [Gene] linkage mapping, candidate gene; a homozygous CIB2 mutation was found in a Pakistani family with Usher syndrome, originally called USH1H, but subsequently shown to be outside this region and hence called "USH1J"; other CIB2 mutations found in several Pakistani families with nonsyndromic deafness; CIB2 protein localizes to stereocilia of inner ear hair cells, photoreceptors and RPE; protein is a component of the Usher interactome Riazuddin 12
RLBP1, CRALBP;
180090
15q26.1 recessive retinitis pigmentosa; recessive Bothnia dystrophy; recessive retinitis punctata albescens; recessive Newfoundland rod-cone dystrophy; protein: retinaldehyde-binding protein 1 [Gene] candidate gene; consanguineous Indian family, Swedish families, Newfoundland isolate and others Burstedt 99; Eichers 02; Maw 97; Morimura 99

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Chromosome 16

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
GNPTG;
252605, 607838
16p13.3 recessive retinitis pigmentosa and skeletal abnormalities; recessive mucolipidosis III gamma; protein: N-acetylglucosamine-1-phosphate transferase gamma subunit [Gene] whole-exome sequencing; exome sequencing identified a homozygous deletion in a consanguineous Canadian family with RP and spondyloepiphyseal dysplasia; other mutations in GNPTG cause mucolipidosis with skeletal and joint abnormalities but no reported retinal findings; GNPTG protein is involved in post-translational modification and trafficking of lysosomal hydrolyses Schrader 11
IFT140, MZSDS, SRTD9, WDTC2;
266920, 614620
16p13.3 recessive Mainzer-Saldino syndrome; recessive retinitis pigmentosa; recessive Leber congenital amaurosis; protein: intraflagellar transport 140 Chlamydomonas homolog protein [Gene] whole-exome sequencing, targeted ciliome resequencing; symptoms of Mainzer-Saldino syndrome are highly variable but usually include skeletal abnormalities, chronic renal disease, retinal dystrophy and cerebellar ataxia, consistent with defects in primary cilia in bone, kidney, brain and retina; diseases with overlapping symptoms include asphyxiating thoracic dystrophy, and Jeune and Sensenbrenner syndromes; compound heterozygous mutations found in Chinese patients with LCA or RP but without additional symptoms; IFT140 codes for a subunit of intraflagellar transport complex A, involved in activity of primary cilia including photoreceptor cilia Perrault 12a; Schmidts 13; Xu 15a
ABCC6, ARA, MRP6, PXE;
177850, 264800, 603234
16p13.11 recessive pseudoxanthoma elasticum; dominant pseudoxanthoma elasticum; protein: ATP-binding casette, subfamily C, member 6 [Gene] linkage mapping, candidate gene; symptoms include progressive abnormalities in skin, retinal Bruch membrane and arteries leading to hemorrhage, calcification and vascular changes, with retinal angioid streaks; may be an extracellular transport protein; ABCC6 mutations in 60 to 80% of patients Bergen 00; Le Saux 00; Le Saux 01; Ringpfeil 00; Struk 97; van Soest 97
RP22;
602594
16p12.3-p12.1 recessive retinitis pigmentosa [Gene] homozygosity mapping; Indian families Finckh 98
CLN3, JNCL;
607042, 204200
16p11.2 recessive Batten disease (ceroid-lipofuscinosis, neuronal 3), juvenile; protein: Batten disease protein [Gene] linkage mapping, candidate gene; symptoms include early-onset retinal pigmentary degeneration with later mental deterioration; protein is integral to Golgi membranes Batten Disease 95; Eiberg 89; Gardiner 90; Kremmidiotis 99; Mitchison 95; Mitchison 95a; Mitchison 97; Munroe 97
ZNF423, NPHP14, JBTS19;
213300, 256100, 604557, 614844
16q12.1 recessive Jobert syndrome; recessive nephronophthisis; protein: zinc finger protein 423 [Gene] whole-exome sequencing; three families with homozygous mutations causing Joubert syndrome or nephronophthisis; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and severe retinal dystrophy; one of a large class of ciliary and centrosomal ciliopathies affecting kidney, brain and retinal cells; ZNF423 protein is involved in DNA damage response Chaki 12
RPGRIP1L, JBTS7, KIAA1005, MKS5, NPHP8;
610937, 611560, 611561
16q12.2 recessive Joubert syndrome; recesssive Meckel syndrome; protein: RP GTPase regulator-interacting 1 like protein [Gene] homozygosity mapping, candidate gene; several families with Joubert syndrome; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and rare retinal dystrophy; one of a growing class of ciliopathy-associated genes affecting photoreceptors; RPGRIP1L has high sequence similarity to RPGRIP1; the protein interacts with NPHP4 protein and other ciliary proteins and is a modifier of other retinal ciliopathies Arts 07; Delous 07; Khanna 09
BBS2;
209900, 606151
16q12.2 recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: BBS2 protein [Gene] linkage mapping, candidate gene; BBS2 mutations found in a large Bedouin family and approximately 20% of BBS families; protein of unknown function with sequence similarity to BBS7; missense mutations in BBS2 may also cause non-syndromic retinitis pigmentosa alone; triallelic inheritance may be required for Bardet-Biedl syndrome, that is, two BBS2 alleles and a third BBS1, BBS4 or MKKS allele Beales 97; Beales 01; Bruford 97; Katsanis 01; Kwitek-Black 93; Nishimura 01; Shevach 15; Woods 99
ARL2BP, BART, BART1  16q13.3 recessive retinitis pigmentosa; protein: ADP-ribosylation factor-like 2 binding protein [Gene] homozygosity mapping, whole-exome sequencing; unrelated homozygous mutations detected in two consanguineous families, Arab-Muslim and European, respectively; affected individuals have RP and variable additional findings consistent with cilia-associated diseases; the ARL2BP protein is widely-expressed, localizes to photoreceptor connecting cilia and may play a role in trafficking of ciliary proteins and factors Davidson 13
CNGB1, CNCG2, CNCG3L, GAR1, GARP, RP45;
268000, 600724, 613767
16q13 recessive retinitis pigmentosa; protein: rod cGMP-gated channel beta subunit [Gene] homozygosity mapping, candidate gene; consanguineous French family; CNGB1 encodes a complex transcription unit with at least 6 non-overlapping transcripts, one of which is the disease gene in this case Ardell 00; Bareil 01
OPA8;
165500
16q21-q22.3 dominant optic atrophy, Kjer type linkage mapping; mapped in a large Italian family with a maximum lod score of 8.8; optic atrophy in the family is frequently associated with late-onset sensorineural hearing loss, increased central conductance times and cardiac abnormalities accompanied by increased mitochondrial biogenesis Carelli 11
CDH3, CDHP, PCAD;
114021, 601553
16q22.1 recessive macular dystrophy, juvenile with hypotrichosis; protein: cadherin 3, type 1, placental [Gene] homozygosity mapping, candidate gene; mutations found in two extended, unrelated, consanguineous Arab Israeli (Druze) families; involves early hair loss followed by progressive macular degeneration culminating in blindness; cadherins are calcium-dependent cell-cell adhesion factors Indelman 02; Sprecher 01
DHX38, PRP16;
605584
16q22.2 recessive retinitis pigmentosa, early onset with macular coloboma; protein: DEAH (Asp-Glu-Ala-His) box polypeptide 38 [Gene] homozygosity mapping, candidate gene; homozygosity mapping in a consanguineous Pakistani family with recessive RP and macular coloboma (holes) led to detection of a homozygous missense mutation in DHX38; additional mutations have not been reported; the DHX38 gene product is a putative RNA helicase involved in pre-RNA splicing Ajmal 14
ADAMTS18, KNO2;
607512, 608454
16q23.1 recessive Knobloch syndrome; recessive retinal dystrophy, early onset; protein: ADAM metallopeptidase with thrombospondin type 1 motif 18 [Gene] homozygosity mapping, whole-exome sequencing; Knobloch syndrome is a developmental disorder of the eye and occipital region of the skull, with symptoms including myopia, cataract, dislocated lens, vitreoretinal degeneration and retinal detachment; a homozygous missense mutation was identified in ADAMTS18 in an Italian patient with early-onset retinal dystrophy and autism disorder but no additional eye findings; the protein is expressed in adult photoreceptors and knockdown in medaka fish produces a phenotype similar to the human disease Aldahmesh 11a; Peluso 13
FHASD;
609218
16q23.2-q24.2 recessive foveal hypoplasia and anterior segment dysgenesis [Gene] linkage mapping; consanguineous Pakistani family; symptoms include nystagmus and poor vision but no non-ocular findings Pal 04

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Chromosome 17

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
CACD, CACD1;
215500
17p13 dominant central areolar choroidal dystrophy [Gene] linkage mapping Hughes 98; Lotery 96
RCD2;
601777
same as GUCY2D dominant cone-rod dystrophy, progressive; recessive cone-rod dystrophy [Gene] linkage mapping, mutation screening; a CORD family was mapped to this region and incorrectly called "CORD5", but was later found to have a GUCY2D mutation; the original CORD5 family has a mutation in PITPNM3 Balciuniene 95; Köhn 07; Payne 99; Small 95; Small 96; Udar 03
PRPF8, PRPC8, RP13;
600059, 607300
17p13.3 dominant retinitis pigmentosa; protein: pre-mRNA processing factor 8 [Gene] linkage mapping, candidate gene; South African and European families; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF6 and PRP31 (RP11) Goliath 95; Greenberg 94; Kojis 96; McKie 01; Tarttelin 96
AIPL1, LCA4;
204000, 604392, 604393
17p13.2 recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: arylhydrocarbon-interacting receptor protein-like 1 [Gene] linkage mapping, candidate gene; locus distinct from CORD5 and RP13; accounts for 5 to 10% of recessive LCA; expression limited to photoreceptors and pineal gland; protein may be involved in nuclear transport or chaperone activity and localizes to rods only, from inner segments through outer plexiform layer Hameed 00; Hanein 04; Sohocki 99; Sohocki 00; van der Spuy 02
PITPNM3, CORD5, NIR1;
120970, 600977, 608921
17p13.2 dominant cone-rod dystrophy; protein: phosphatidylinositol transfer membrane-associated family member 3 [Gene] linkage mapping, candidate gene; CORD5 was originally mapped in a Swedish family, one of two later found to have a missense mutation in PITPNM3; protein is involved in phospholipid transport and photoreceptor membrane renewal; mutations in the homologous Drosophila gene cause retinal degeneration B (rdgB) Balciuniene 95; Köhn 07
GUCY2D, CORD6, LCA1, RETGC, RETGC1;
120970, 204000, 600179, 601777
17p13.1 recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: retinal-specific guanylate cyclase [Gene] linkage mapping, candidate gene; North African and other families; causes 10 to 20% of recessive LCA and up to 40% of dominant COD or CORD; same gene affected in rd/rd chicken; lentiviral expression of GUCY2D restores vision in this model; most mutations causing COD or CORD are found in codon 838 (arginine) and arise on different haplotypes Camuzat 95; Camuzat 96; Hanein 04; Kelsell 97; Kelsell 98a; Kitiratschky 08; Lotery 00; Payne 01; Perrault 96; Perrault 98; Semple-Rowland 98; Williams 06
CORD4  17q cone-rod dystrophy [Gene] proposed association with neurofibromatosis; with limited supporting evidence and never confirmed; presumed dominant acting Klystra 93
UNC119, HRG4;
604011
17q11.2 dominant cone-rod dystrophy; protein: human homolog of C. elegans unc119 protein [Gene] candidate gene; missense mutation in one family; UNC119 is a photoreceptor synaptic protein homologous to C. elegans neuroprotein unc119; protein localizes to rod and cone ribbon synapses Kobayashi 00
GPR179, CSNB1E;
310500, 614515, 614565
17q12 recessive complete congenital stationary night blindness; protein: G protein-coupled receptor 179 [Gene] animal model, whole-exome sequencing; mutations in several independently-ascertained families; homozygous GPR179 mutation in the nob5 mouse; GPR179 is a G protein-coupled receptor expressed in retinal bipolar cells; CSNB patients have reduced or absent b-wave response as a result of bipolar cell abnormalities, consistent with the function of GRP179 protein Audo 12; Peachey 12
MKS1, BBS13;
209900, 249000, 609883
17q22 recessive Bardet-Biedl syndrome; recessive Meckel syndrome; protein: Meckel syndrome type 1 protein [Gene] candidate gene; a pair of recessive MKS1 mutations in a Turkish BBS patient and heterozygous variants in patients with mutations in other BBS genes suggest that MKS1 mutations can be a primary cause of BBS, may cause digenic disease, and may modify clinical expression; Meckel syndrome is a severe congenital disease including brain malformations, kidney and liver disease, and polydactyly; MKS1 protein is a component of the flagellar basal body Kyttälä 06; Leitch 08
CA4, RP17;
600852, 114760
17q23.2 dominant retinitis pigmentosa; protein: carbonic anhydrase IV [Gene] linkage mapping, candidate gene; mutations in CA4 may cause the RP17 form of RP but there is doubt - the original Arg14Trp "mutation" is found in 4% of Swedish controls and no additional mutations have been reported to segregate with disease; same chromosomal site as dog prcd progressive rod-cone degeneration; carbonic anhydrases are Zn-containing enzymes that catalyze hydration of carbon dioxide; CA4 protein is a membrane-anchored enzyme found in pulmonary capillaries, proximal renal tubules and retinal choriocapillaris Acland 98; Alvarez 07; Bardien 95; Bardien-Kruger 99; den Hollander 99; Inglehearn 98; Köhn 08; Rebello 04
RGS9;
604067
17q24.1 recessive delayed cone adaptation; protein: regulator of G-protein signalling 9 [Gene] candidate gene; homozygous mutations in several unrelated patients with slow cone adaptation to sudden light changes (bradyopsia); rods in knockout mice show slowed flash recovery; protein forms a heterotrimeric complex with R9AP and is a photoreceptor-specific member of a family of proteins that deactivate transducins Chen 00; He 98; Nishiguchi 04
PRCD, RP36;
268000, 610598, 610599
17q25.1 recessive retinitis pigmentosa; protein: progressive rod-cone degneration protein [Gene] animal model, candidate gene; a single homozygous missense change accounts for recessive prcd in many dog breeds; the same mutation, Cys2Tyr (TGC→TAC), is found in a Bangladesh individual with recessive RP; the PRCD transcript is expressed throughout the retina and at much lower levels in other tissues; protein of unknown function; additional consanguineous Israeli Arab family Goldstein 06; Nevet 10; Zangerl 06
USH1G, SANS;
276900, 606943, 607696
17q25.1 recessive Usher syndrome; protein: human homolog of mouse scaffold protein containing ankyrin repeats and SAM domain [Gene] linkage mapping, candidate gene; consanguineous Pakistani family from Jordan; linkage region overlaps isolated deafness loci DFNA20 and DFNA26; mutations in mouse Sans cause Jackson shaker (js) phenotype with deafness and vestibular dysfunction; SANS associates with the USH1C protein as part of hair cell bundles Kikkawa 03; Mustapha 02a; Weil 03
FSCN2, RP30;
607643, 607921
17q25.3 dominant retinitis pigmentosa; dominant macular dystrophy; protein: retinal fascin homolog 2, actin bundling protein [Gene] candidate gene; mutations in FSCN2 may cause RP and/or MD but there is doubt - the 208delG "mutation" is a benign polymorphism in Asians (in heterozygotes) and no additional, pathogenic mutations have reported; the FSCN2 protein is a photoreceptor-specific paralog of fascin which crosslinks and bundles f-actin Bardien-Kruger 99; Tubb 00; Wada 01; Wada 03; Zhang 07a
PDE6G, RP57;
180073, 268000, 613582
17q25.3 recessive retinitis pigmentosa; protein: phosphodiesterase 6G cGMP-specific rod gamma [Gene] homozygosity mapping, candidate gene; homozygous splice-site mutation in a large, consanguineous Arab Israeli family; symptoms include early-onset RP with macular involvement; PDE6G is an inhibitory subunit of cGMP phosphodiesterase, a key enzyme complex in phototransduction Dvir 10

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Chromosome 18

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
LAMA1, PTBHS;
150320, 615960
18p11.31-p11.23 recessive retinal dystrophy and cerebellar dysplasia; protein: alpha 1 laminin [Gene] homozygosity mapping, whole-exome sequencing; mutations in LAMA1 cause Poretti-Boltshauser syndrome (PTBHS) with variable developmental abnormalities of the cerebellum, cerebellar cysts, eye movement disorders and retinal dystrophy; laminins are extracellular basement membrane proteins involved in embryogenesis Aldinger 14
OPA4;
165500, 605293
18q12.2-q12.3 dominant optic atrophy, Kjer type [Gene] linkage mapping; American family of German descent; previously linked to Kidd blood group Kerrison 99; Kivlin 83
CORD1;
120970, 600624
18q21.1-q21.3 cone-rod dystrophy; de Grouchy syndrome [Gene] deletion mapping; isolated case; symptoms include COD, retardation and hearing impairment Manhant 95; Warburg 91

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Chromosome 19

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
C3, ARMD9, ASP;
120700, 603075, 611378
19p13.3 age-related macular degeneration, complex etiology; protein: complement component 3 [Gene] association study; the Arg80Gly polymorphism in C3 (rs22230199, also called Arg102Gly) is associated with AMD in English and Scottish populations; homozygotes for the glycine allele have a 2-to-3 fold increase in life-time risk; the arginine and glycine alleles produce the "slow" and "fast" C3 alleles, respectively; the Gly allele has a 17% frequency in Caucasians but is rare or absent from Africans and Asians; AMD is also associated with complement genes C2, CFB and CHF Maller 07; Yates 07
RAX2, ARMD6, CORD11, QRX, RAXL1;
120970, 610362, 610381
19p13.3 cone-rod dystrophy, isolated; age-related macular degeneration, isolated; protein: retina and anterior neural fold homeobox 2 transcription factor [Gene] candidate gene; RAX2 protein is a modulator of photoreceptor gene expression, present in human and bovine genomes but not, apparently, in the mouse genome; three different, heterozygous, mutations found in two isolated CORD patients and one AMD patient; mode of inheritance unknown Wang 04
PNPLA6, BNHS, OMCS, SPG39;
215470, 275400, 603197, 612020
19p13.2 recessive Boucher-Neuhauser syndrome with chorioretinal dystrophy; protein: patatin-like phospholipase domain-containing protein 6 [Gene] whole exome sequencing, candidate gene; homozygous and compound heterozygous mutations in PNPLA6 cause a wide range of variable symptoms including spinocerebellar ataxia, hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser, Oliver-McFarlane or Gordon Holmes syndromes); symptoms may include peripheral neuropathy and cognitive abnormalities; the PNPLA6 protein is a multifunctional phospholipase which de-esterifies phosphatidylcholine Kmoch 15; Synofzik 14; Topaloglu 14
RGS9BP, R9AP, RGS9;
607814
19q13.12 recessive delayed cone adaptation; protein: regulator of G-protein signalling 9-binding protein [Gene] candidate gene; homozygous mutations in several unrelated patients with slow cone adaptation to sudden light changes (bradyopsia); protein binds to and is a regulator of RGS9, a photoreceptor-specific member of a family of proteins that deactivate transducins Hu 02; Nishiguchi 04
MCDR5  19q13.31-q13.32 dominant macular dystrophy linkage mapping; mapping in a large Greek family Yang 06a
CRX, CORD2, LCA7;
120970, 204000, 268000, 602225, 613829
19q13.32 dominant cone-rod dystrophy; recessive, dominant and de novo Leber congenital amaurosis; dominant retinitis pigmentosa; protein: cone-rod otx-like photoreceptor homeobox transcription factor [Gene] linkage mapping, candidate gene; meiotic drive suggested; CRX also activates pineal genes; interacts with NRL; Crx-deficient mice have diminished circadian entrainment; causes 1 to 3% of LCA; 1 bp CRX deletion in Rdy cat with dominant rod-cone dysplasia Bellingham 97; Evans 94; Evans 95; Freund 97; Freund 98; Furukawa 99; Gregory 94; Hanein 04; Li 98; Lotery 00; Menotti-Raymond 10; Sohocki 98; Swain 97; Swaroop 99
OPA3, MGA3;
165300, 165500, 258501, 606580
19q13.32 recessive optic atrophy with ataxia and 3-methylglutaconic aciduria; dominant optic atrophy with cataract, ataxia and areflexia; protein: OPA3 protein [Gene] linkage mapping, candidate gene; Iraqi-Jewish and other families; protein may play a role in mitochondrial processes; ubiquitously expressed, predominantly in skeletal muscle, kidney and brain; also called Costeff optic atrophy syndrome; symptoms related to 3-methylglutaconic aciduria include early-onset optic atrophy, cognitive deficit, extrapyramidal abnormalities, ataxia and spastic paraplegia Anikster 01; Ayrignac 12; Nystuen 98
PRPF31, PRP31, RP11;
600138, 606419
19q13.42 dominant retinitis pigmentosa; protein: pre-mRNA processing factor 31 [Gene] linkage mapping, candidate gene; incomplete penetrance and bimodal severity result from variable expression of alleles in trans; large deletions in PRPF31, not detectable by sequencing, account for 2.5% of dominant RP; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF6 and PRPF8 (RP13); an intronic SNP in CNOT3 contributes to incomplete expression Al-Maghtheh 94; Al-Maghtheh 96; McGee 97; Sullivan 06a; Venturini 12; Vithana 98; Vithana 01; Vithana 03

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Chromosome 20

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
IDH3B, RP46;
268000, 604526, 612572
20p13 recessive retinitis pigmentosa; protein: NAD(+)-specific isocitrate dehydrogenase 3 beta [Gene] expression mapping; unique identification based on reduced mRNA expression in lymphoblasts; two families with low or absent expression; isocitrate dehydrogenase catalyzes conversion of isocitrate to α-ketogluterate in the citric acid cycle (Krebs cycle); the Krebs cycle is localized to mitochondria, further confirming the role of mitochondria in retinal diseases; no additional symptoms were observed in the RP patients Hartong 08
PANK2, HARP, PKAN;
234200, 606157, 607236
20p13 recessive HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and palladial degeneration); recessive Hallervorden-Spatz syndrome; protein: pantothenate kinase 2 [Gene] homozygosity mapping, candidate gene; symptoms are highly variable including progressive rigidity, pigmentary retinopathy, iron deposits in the palladium, and neurological disorders; PANK2 mutations account for at least 66% of affected families, with deletions in 4%; the PANK2 gene is ubiquitously expressed and the protein is an essential enzyme in CoA biosynthesis, catalyzing phosphorylation of pantothenate; Hallervorden's name is no longer associate with this syndrome because of his role in eugenics Ching 02; Hartig 06; Hayflick 03; Houlden 03; Taylor 96; Zhou 01
JAG1, AGS;
118450, 601920
20p12.2 dominant Alagille syndrome; protein: Jagged protein 1 [Gene] deletion mapping, candidate gene; multiple affected organs including chorioretinal atrophy and retinal pigment changes; Jagged is the ligand for Notch proteins, involved in cell-cell interactions Hol 95; Li 97; Oda 97; Oda 97a; Schnittger 89
MKKS, BBS6;
209900, 236700, 604896
20p12.2 recessive Bardet-Biedl syndrome; protein: McKusick-Kaufman syndrome protein [Gene] linkage mapping, candidate gene; MKKS mutations also cause McKusick-Kaufman syndrome with multiple congenital and developmental anomalies in Old Order Amish families; protein has sequence similarity to chaperonins; often involved in triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele Beales 01; Katsanis 00; Katsanis 01; Slavotinek 00; Stone 98a; Stone 00
KIZ, RP69;
268000, 615757, 615780
20p11.23 recessive retinitis pigmentosa; protein: kizuna centrosomal protein [Gene] whole-exome sequencing; a homozygous nonsense mutation detected in two families with recessive rod cone dystrophy, one family of North African Sephardic Jewish origin and the other of Spanish ancestry, and compound heterozygous mutations in a third family; KIZ mutations may account for up to 1% of recessive RP patients in this population; the KIZ gene is widely expressed and its product localizes to and stabilizes centrosomes, thus this is an additional ciliopathy El Shamieh 14
ABHD12, PHARC;
613599, 612674
20p11.21 recessive syndromic PHARC; recessive Usher syndrome, type 3-like; protein: abhydrolase domain containing protein 12 [Gene] linkage mapping, candidate gene, targeted NGS; mutations in ABHD12 cause PHARC in multiple families; PHARC is a neurodegenerative disease involving polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract; a homozygous ABHD12 mutation was identified in a Lebanese family with USH3-like findings and cataracts; ABHD12 enzyme hydrolyzes 2-arachidonoyl glycerol, an endocannabinoid lipid transmitter that acts on cannabinoid receptors Eisenberger 12; Fiskerstrand 10
CEP250;
609689
20q11.22 recessive Usher syndrome, atypical; protein: centrosomal protein 250 kDa [Gene] homozygosity mapping, whole-exome sequencing; a homozygous nonsense mutation in CEP250 accompanied by a heterozygous or homozygous nonsense mutation in C2orf71 causes atypical Usher syndrome in a consanguineous Iranian Jewish family; the C2orf71 mutation increases severity in an additive fashion; CEP250 mutations alone may or may not be sufficient to cause Usher syndrome; the CEP250 gene product is a member of a family of proteins involved in centrosomal activity Khateb 14
PRPF6, RP60;
268000, 613979, 613983
20q13.33 dominant retinits pigmentosa; protein: pre-mRNA processing factor 6 [Gene] candidate gene; missense mutation in one dominant RP family among 188 screened; mutation affects PRPF6 protein localization in patient-derived cells; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF8 (RP13) and PRP31 (RP11) Tanackovic 11

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Chromosome 21

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
USH1E;
276900, 602097
21q21 recessive Usher syndrome, type 1 [Gene] linkage mapping Chäib 97
C21orf2;
603191
21q22.3 recessive cone-rod dystrophy; protein: chromosome 21 open reading frame 2 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in an isolated Saudi CORD patient and a novel homozygous splice-site mutation in a second isolated Saudi CORD patient; protein of unknown function Abu-Safieh 13

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Chromosome 22

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
OPA5;
165500, 610708
22q12.1-q13.1 dominant optic atrophy [Gene] linkage mapping; two French families with phenotypes similar to OPA1 Barbet 05
TIMP3, SFD;
136900, 188826
22q12.3 dominant Sorsby's fundus dystrophy; protein: tissue inhibitor of metalloproteinases-3 [Gene] linkage mapping, candidate gene; model for ARMD; common British mutation; vitamin A reverses night blindness Felbor 95; Felbor 97; Jacobson 95; Peters 95; Stöhr 95; Weber 94; Weber 94b; Wijesuriya 96
IFT27, BBS19;
209900, 615870, 615996
22q12.3 recessive Bardet-Biedl syndrome; protein: intraflagellar transport 27 Chlamydomonas homolog [Gene] homozygosity mapping, candidate gene; homozygosity mapping identified a homozygous missense mutation in IFT27 in a consanguineous Saudi family with two affected siblings; no additional mutations have been reported; a zebrafish model has complex ciliopathy features; the authors conclude that the IFT27 mutation is the cause of disease in this family and assign the symbol "BBS19" to this locus; the IFT27 gene product is associated with intraflagellar transport in green algae Aldahmesh 14
TUBGCP6, MCCRP1;
251270, 610053
22q13.33 recessive microcephaly with chorioretinopathy; protein: tubulin gamma-complex associated protein 6 [Gene] linkage mapping, whole-exome sequencing; homozygous mutations in TUBGCP6, first observed in an Old Order Amish family, cause complex developmental disorders including microcephalic dwarfism and chorioretinal degeneration; the TUBGCP6 protein plays a key role in centriolar function and is phosphorylated by PLK4, mutations in which cause a similar phenotype Martin 14; Puffenberger 12
VRD1  22q13 recessive vitreoretinal dystrophy homozygosity mapping; the disease locus in a Swiss, multiplex family maps to 22q13, a region containing FBLN1, but no mutations were found in FBLN1 Weigell-Weber 03

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X Chromosome

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
OFD1, RP23;
300170, 300209, 300424, 300804, 311200
Xp22.2 Jobert syndrome; orofaciodigital syndrome 1, Simpson-Golabi-Behmel syndrome 2; X-linked retinitis pigmentosa, severe; protein: oral-facial-digital syndrome 1 protein [Gene] linkage mapping, candidate gene; a frameshift mutation causes Jobert syndrome in a Malaysian family with unaffected carrier females but severely affected males; symptoms include RP, polydactyly, brain and facial abnormalities, development delay and breathing problems; targeted genomic next-generation sequencing also uncovered a deep intronic mutation in a family with severe X-linked RP (the RP23 locus); OFD1 is a centrosomal protein which interacts with other ciliopathy-associated proteins including lebercilin (LCA5) and SDCCAG8 Coene 09; Hardcastle 00; Webb 12
RS1, XLRS1;
312700
Xp22.13 retinoschisis; protein: retinoschisin [Gene] linkage mapping, candidate gene; retinoschisin contains a large discoidin domain; expression is limited to photoreceptors but protein is secreted into the inner retina Bergen 93a; Grayson 00; Huopaniemi 97; Retinoschisis 98; Sauer 97; Sieving 90
(- - -)  Xp21-q21 retinitis pigmentosa with mental retardation linkage mapping; may be contiguous gene syndrome including RP2 Aldred 94
RP6;
312612
Xp21.3-p21.2 X-linked retinitis pigmentosa [Gene] linkage mapping; distinct from RP2 and RP3 Breuer 00; Musarella 90; Ott 90
DMD;
310200
Xp21.2-p21.1 Oregon eye disease (probably); protein: dystrophin [Gene] candidate gene; exons 20-28 involved in retinal disease D'Souza 95; Pillers 93; Ray 92
OPA2;
165500, 311050
Xp11.4-p11.2 X-linked optic atrophy [Gene] linkage mapping; large Dutch family Assink 97
RPGR, CORDX1, RP3;
300029, 304020, 312610
Xp11.4 X-linked retinitis pigmentosa, recessive; X-linked retinitis pigmentosa, dominant; X-linked cone dystrophy 1; X-linked atrophic macular dystrophy, recessive; protein: retinitis pigmentosa GTPase regulator [Gene] linkage mapping, candidate gene; mutations are found in 70% of RP3 cases, with dominant mutations in ORF15 (a mutation hot spot); same gene affected in XLPRA dog; exceptionally heterogeneous, retina-specific alternate splicing; RPGR mutations account for at least 15% of male sporadic (isolated) RP cases; protein is similar to RCC1, and interacts with IQCB1, PDE6D and RPGRIP1; species differences in subcellular localization; rare association with hearing loss and recurrent infections Andréasson 97; Ayyagari 02; Bader 03; Branham 12; Buraczynska 97; Fujita 97; Kirschner 99; Linari 99; Mavlyutov 02; Meindl 96; Musarella 90; Ott 90; Pelletier 06; Roepman 96; Roepman 96a; Rozet 02; Vervoort 00; Yang 02; Zeiss 00; Zhang 02; Zito 03
NYX, CSNB1, CSNB1A, CSNB4;
300278, 310500
Xp11.4 X-linked congenital stationary night blindness; protein: nyctalopin [Gene] linkage mapping, candidate gene; nyctalopin is an extracellular glycosylphosphatidyl (GPI)-anchored member of the small leucine-rich proteoglycan (SLRP) protein family; expressed in several tissues but more abundant in retina and kidney; NYX mutations are found in a majority of X-linked complete-CSNB patients; NYX mutation found in the original CSNB4 family ('CSNB4' also refers to rhodopsin) Bech-Hansen 00; Bergen 95; Boycott 98; Gal 89; Hardcastle 97; Musarella 89; Pusch 00
COD1;
304020
same as RPGR X-linked cone dystrophy 1 linkage mapping, mutation screening; locus remapped and deletions in ORF15 of RPGR detected Bartley 89; Bergen 93; Dash-Modi 96; Demirci 02; Hong 94; Meire 94; Seymour 98; Yang 02
RP15;
300029
same as RPGR X-linked retinitis pigmentosa, dominant linkage mapping, mutation screening; locus remapped and de novo insertion in ORF15 of RPGR detected; 'RP15' withdrawn McGuire 95a; Mears 00
PRD;
312550
Xp11.3-p11.23 retinal dysplasia, primary [Gene] linkage mapping; linked to Norrie disease, may be same locus Ravia 93
NDP, EVR2;
133780, 300658, 305390, 310600
Xp11.3 Norrie disease; familial exudative vitreoretinopathy; Coats disease; protein: Norrie disease protein (norrin) [Gene] linkage mapping, candidate gene; expressed in multiple tissues; some mutations cause FEVR but evidence of genetic heterogeneity; associated with retinopathy of prematurity; somatic mutation causes Coats disease; NDP, FZD4, LRP5 and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Berger 92; Berger 92a; Black 99; Chen 92; Chen 93; Chen 93a; Fuchs 94; Fuchs 96; Fullwood 93; Gal 85; Isashiki 95; Meindl 92; Meindl 95; Rehm 97; Schuback 95; Shastry 95; Shastry 97; Shastry 97a; Shastry 97b; Strasberg 95
AIED, OA2;
300600
same as CACNA1F Åland Island eye disease [Gene] linkage mapping; CACNA1F mutations found in AIED-like patients and later in the original Åland Island family Alitalo 91; Glass 93; Jalkanen 07; Schwartz 91; Wutz 02
RP2;
312600
Xp11.23 X-linked retinitis pigmentosa; X-linked retinitis pigmentosa, dominant; protein: retinitis pigmentosa 2 (X-linked) [Gene] linkage mapping, candidate gene; human cofactor C is involved in beta-tubulin folding; accounts for 10% of XlRP in European and North American families; affected "carrier" females in at least one family; novel protein similar to human cofactor C Bhattacharya 84; Hardcastle 99; Mears 99; Pomares 09; Schwahn 98; Teague 94; Thiselton 96
CACNA1F, CORDX3, CSNB2, CSNB2A, CSNBX2;
300071, 300110, 300476, 300600, 310500
Xp11.23 X-linked congenital stationary night blindness, incomplete; AIED-like disease; severe congenital stationary night blindness; X-linked progressive cone-rod dystrophy; protein: L-type voltage-gated calcium channel alpha-1 subunit [Gene] linkage mapping, candidate gene; founder mutation in Mennonites; CACNA1F mutations are found in 60 to 90% of X-linked incomplete-CSNB patients; retina-specific expression with synaptic localization of protein; mutations in AIED-like patients and later found in the original Åland Island family; associated with optic atrophy in a Japanese family; the CORDX3 locus in a Finish family later identified as a CACNA1F mutation Aldred 92; Bech-Hansen 92; Bech-Hansen 98; Berger 95; Boycott 01; Hope 05; Jalkanen 03; Jalkanen 06; Jalkanen 07; Morgans 01; Nakamura 03; Strom 98; Wutz 02
PGK1;
300653, 311800
Xq21.1 retinitis pigmentosa with myopathy; protein: phosphoglycerate kinase [Gene] candidate gene; one case only - RP is not usually found with PGK deficiency Tonin 93
CHM;
303100
Xq21.2 choroideremia; protein: geranylgeranyl transferase Rab escort protein 1 [Gene] linkage mapping, candidate gene; ubiquitously expressed protein (REP2 can substitute); attaches isoprenoids to Rab (e.g., Rab 27) proteins Andres 93; Beaufrère 96; Cremers 90; Nussbaum 85; Seabra 93; van Bokhoven 94; van Bokhoven 94a; van den Hurk 92; van den Hurk 97
TIMM8A, DDP, DDP2, DFN1;
300356, 304700, 311150
Xq22.1 optic atrophy with deafness-dystonia syndrome; protein: inner mitochondrial membrane translocase 8 homolog A [Gene] linkage mapping, candidate gene; symptoms include progressive optic nerve atrophy, nerve deafness and dementia; also known as Mohr-Tranebjaerg or Jensen syndrome; protein involved in transport of metabolites into mitochondria Jin 96; Koehler 99; Tranebjaerg 95
PRPS1, ARTS, CMTX5, DFNX1;
300661, 301835, 304500, 311070, 311850
Xq22.3 neuropathy, optic atrophy, deafness and retinitis pigmentosa; protein: phosphoribosyl pyrophosphate synthetase 1 [Gene] whole-exome sequencing; loss-of-function or reduced-function mutations in PRPS1 cause a range of variable symptoms in males and carrier females, symptoms often include optic atrophy, retinopathy and/or retinitis pigmentosa; other common findings are progressive peripheral neuropathy, ataxia and hearing loss; named conditions include Charcot-Marie-Tooth disease 5 (CMTX5), Arts syndrome (ARTS), non-syndromic deafness (DFNX1) and hyperuricemia from PRPS1 superactivity; the PRPS1 protein product is involved in de novo and salvage pathways for purine and pyrimidine biosynthesis Al-Maawali 15; Almoguera 14; de Brouwer 07; Kim 07
RP24;
300155
Xq26-q27 X-linked retinitis pigmentosa [Gene] linkage mapping; single large family; RP2, RP3 and RP15 excluded Gieser 98
COD2, CORDX2;
300085
Xq27 X-linked progressive cone dystrophy 2 [Gene] linkage mapping Bergen 97
RP34;
300605
Xq28-qter X-linked retinitis pigmentosa [Gene] linkage mapping; maximum lod score of 2.2 in one family, RP24 excluded Melamud 06
OPN1LW, BCM, CBP, COD5, RCP;
303700, 303900
Xq28 deuteranopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element; protein: green cone opsin [Gene] candidate gene; one to five copies 3' to red pigment gene or more complex organization; absence of both OPNL1LW and OPNMW, either as a result of mutations in the genes or mutations in the locus control element, cause blue-cone monochromacy (blue cones only), also called cone dystrophy 5 Ayyagari 99; Nathans 86; Nathans 92; Neitz 95; Winderickx 92
OPN1MW, CBD, GCP;
303700, 303800
Xq28 protanopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element; protein: red cone opsin [Gene] candidate gene; Ala180Ser polymorphism with spectral shift; absence of both OPNL1LW and OPNMW, either as a result of mutations in the genes or mutations in the locus control element, cause blue-cone monochromacy (blue cones only), also called cone dystrophy 5 Ayyagari 99; Nathans 86; Nathans 92

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Mitochondrion

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
KSS;
530000
mitochondrion Kearns-Sayre syndrome including retinal pigmentary degeneration; protein: several mitochondrial proteins [Gene] sequencing; multiple large deletions OMIM 15; Puddu 93; Wallace 99
LHON;
535000
mitochondrion Leber hereditary optic neuropathy; protein: complex I, III or IV proteins [Gene] sequencing; three mutations (MTND1-3460, MTND4-11778 and MTND6-14484) account for 95% of European cases and one (11778) for 80% of Japanese cases; penetrance influenced by mtDNA haplotype; uncertain role of rare variants; spontaneous recovery possible Brown 92; Brown 97; Hofmann 97; Howell 97; Howell 98; Huoponen 93; Mashima 93; Nikoskelainen 96; OMIM 15; Riordan-Eva 95; Torroni 97; Wallace 88
MT-TL1, DMDF, TRNL1;
520000, 590050
mitochondrion macular pattern dystrophy with type II diabetes and deafness; protein: leucine tRNA 1 (UUA/G), nt 3230-3304 [Gene] sequencing; one of two mitochondrial leucine tRNAs; often caused by heteroplasmic A3243G mutation; other mutations can cause a similar disease Bonte 97; Harrison 97; Massin 95; Michaelides 08; van den Ouweland 92
MT-ATP6, ATP6, NARP;
516060, 551500
mitochondrion retinitis pigmentosa with developmental and neurological abnormalities; Leigh syndrome; Leber hereditary optic neuropathy; protein: complex V ATPase 6 subunit, nt 8527-9207 [Gene] sequencing; symptoms include developmental delay, neuropathy, ataxia and RP, with or without optic atrophy; RP found primarily with T8993G (Leu156Arg) mutation Holt 90; Lamminen 95; Santorelli 93; White 99
MT-TH, TRNH;
590040
mitochondrion pigmentary retinopathy and sensorineural hearing loss; protein: histidine tRNA, nt 12138-12206 [Gene] sequencing; Italian family with heteroplasmic mutation and variable additional findings; another MTTH mutation is associated with cardiomyopathy Crimi 03
MT-TS2, TRNS2;
500004, 590085
mitochondrion retinitis pigmentosa with progressive sensorineural hearing loss; protein: serine tRNA 2 (AGU/C), nt 12207-12265 [Gene] linkage mapping, sequencing; one of two mitochondrial serine tRNAs; Irish family; previously mapped to 9q as RP21 Mansergh 99
MT-TP, TRNP;
590075
mitochondrion retinitis pigmentosa with deafness and neurological abnormalities; protein: proline tRNA, nt 15955-16023 [Gene] sequencing; isolated patient with a hetroplasmic C to A substitution at nucleotide 15975; other MT-TP mutations associated Parkinson disease and/or myopathy Da Pozzo 09

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Supported by The Foundation Fighting Blindness, The George Gund Foundation, and The Hermann Eye Fund.

©1996-2015, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas