RetNet:
Genes and Mapped Loci Causing Retinal Diseases

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Listed by chromosome:

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Total entries = 212. If you know the symbol but not the chromosome, please use the Symbols list to find a gene.

(Last updated June 13, 2008)



Chromosome 1

Symbols;
OMIM Numbers 		Location Diseases;
Protein 		How Identified;
Comments 		References
LCA9;
608553 		1p36 recessive Leber congenital amaurosis [Entrez] linkage mapping; single consanguineous Pakistani family Keen 03
NPHP4, SLSN4;
606966, 606996, 607215 		1p36.31 recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; protein: nephronophthisis 4 protein [Entrez] 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
RP32;
609913 		1p34.3-p13.3 recessive retinitis pigmentosa, severe [Entrez] linkage mapping; Pakistani family with early night blindness, complete loss of vision and macular degeneration Zhang 05
RPE65, LCA2, RP20;
180069, 204100 		1p31.2 recessive Leber congenital amaurosis; recessive retinitis pigmentosa; protein: retinal pigment epithelium-specific 65 kD protein [Entrez] 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; sucessful gene therapy in dog; in same pathway as LRAT Acland 01; Aguirre 98; Gu 97; Hanein 04; Lotery 00; Marlhens 97; Morimura 98; Redmond 98; Van Hooser 00; Veske 99
ABCA4, ABCR, ARMD2, CORD3, RP19, STGD1;
153800, 248200, 601691, 601718, 603075 		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 [Entrez] 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
COL11A1, STL2;
120280, 154780, 604841 		1p21.1 dominant Stickler syndrome, type II; dominant Marshall syndrome; protein: collagen, type XI, alpha 1 [Entrez] 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 [Entrez] 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
PRPF3, HPRP3, PRP3, RP18;
601414, 607301 		1q21.2 dominant retinitis pigmentosa; protein: human homolog of yeast pre-mRNA splicing factor 3 [Entrez] linkage mapping, candidate gene; English and Danish families; early onset night blindness; recurrent Thr494Met mutation; protein is a highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex which includes PRPF31 (RP11) and PRPF8 (RP13) Chakarova 02; Heng 98; Xu 96a; Xu 98
SEMA4A, CORD10, SEMAB, RP35;
607292, 610282 		1q22 dominant retinitis pigmentosa; dominant cone-rod dystrophy; protein: semaphorin 4A [Entrez] 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;
605549 		1q23.1-q23.3 recessive cone-rod dystrophy [Entrez] linkage mapping; consanguineous Pakistani family Ismail 06; Khaliq 00
HMCN1, ARMD1, FBLN6;
603075, 608548 		1q25.3-q31.1 dominant macular dystrophy, age-related; protein: hemicentin 1 (fibulin 6) [Entrez] 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
AXPC1;
609033 		1q31-q32 recessive ataxia, posterior column with retinitis pigmentosa [Entrez] linkage mapping Higgins 99
CFH, ARMD4, ARMS1, HF1;
134370, 603075, 609814, 610698 		1q31.3 age-related macular degeneration, complex etiology; recessive drusen, early-onset; protein: complement factor H [Entrez] 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 haplotpes 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;
600105, 604210 		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 [Entrez] 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, 610612 		1q32.3 recessive Leber congenital amaurosis; protein: RD3 protein [Entrez] 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
USH2A;
276901, 608400 		1q41 recessive Usher syndrome, type 2a; recessive retinitis pigmentosa; protein: usherin [Entrez] 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 2299delG mutation with atypical phenotype; Cys759Phe mutation found in 4 to 5% of recessive RP without hearing loss; an additional 51 exons have been identified Bhattacharya 02; Eudy 98; Kimberling 90; Kimberling 95; Lewis 90; Liu 99; Rivolta 00; Saouda 98; Seyedahmadi 04; van Wijk 04; Weston 00

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Chromosome 2

Symbols;
OMIM Numbers 		Location Diseases;
Protein 		How Identified;
Comments 		References
RP28;
606068 		2p16-p11 recessive retinitis pigmentosa [Entrez] homozygosity mapping; consanguineous Indian families Gu 99; Kumar 04
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) [Entrez] 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 Edwards 98; Héon 96; Héon 96a; Kermani 99; Gregory 96; Marmorstein 02; Stone 99
ALMS1, ALSS;
203800 		2p13.1 recessive Alström syndrome; protein: ALMS1 protein [Entrez] 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
RP33;
610359 		2cen-q12.1 dominant retinitis pigmentosa [Entrez] linkage mapping; Chinese family Zhao 06
LOC619531;
217080 		2q11 recessive cone-rod dystrophy and amelogenesis imperfecta [Entrez] linkage mapping; a consanguineous Arab family and a Kosovo family; may be one or more loci; symptoms include cone-rod dystrophy and abnormal development of tooth enamel; CNGA3 excluded Downey 02; Michaelides 04
CNGA3, ACHM2, CNCG3, RMCH2;
216900, 600053 		2q11.2 recessive achromatopsia; protein: cone photoreceptor cGMP-gated cation channel alpha subunit [Entrez] 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 Arbour 97; Kohl 98; Kohl 02; Nishiguchi 05; Wissinger 98; Wissinger 01
MERTK;
604705 		2q13 recessive retinitis pigmentosa; protein: c-mer protooncogene receptor tyrosine kinase [Entrez] candidate gene; several affected familes; 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 D'Cruz 00; Gal 00; Vollrath 01
NPHP1, JBTS4, SLSN1;
256100, 266900, 607100, 609583 		2q13 recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; recessive Joubert syndrome; protein: nephronophthisis 3 protein [Entrez] 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; large NPHP1 deletions in most nephronophthisis cases; NPHP1 protein interacts with NPHP3 and NPHP4 proteins Antignac 93; Caridi 98; Hildebrandt 97; Mollet 02; Parisi 04; Saunier 97; Saunier 00
BBS5;
209900, 603650 		2q31.1 recessive Bardet-Biedl syndrome; protein: flagellar apparatus-basal body protein DKFZp7621194 [Entrez] 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; protein: ceramide kinase-like protein [Entrez] linkage mapping, candidate gene; same homozygous mutation in two Spanish families; ceramide kinases are invloved in neuronal cell survival and apopotosis; CERKL is expressed in retinal ganglion cells, among other tisssues Bayés 98; Tuson 04
KCNJ13, SVD;
193230, 603208 		2q37.1 dominant vitreoretinal degeneration, snowflake; protein: inwardly-rectifying potassium channel subfamily J member 13 [Entrez] linkage mapping, candidate gene; linkage in an American family of European origin; COL4A3 excluded; disease involves developmental and progressive abnormalities affecting multiple tissues of the eye; symptoms include early-onset cataracts, retinal deposits and retinal detachment; 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
SAG;
181031, 258100 		2q37.1 recessive Oguchi disease; recessive retinitis pigmentosa; protein: arrestin (s-antigen) [Entrez] 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;
276905 		3p24.2-p23 recessive Usher syndrome, type 2 [Entrez] linkage mapping; mapped region overlaps with deafness locus DFNB6; DFNB6 is caused by mutations in TMIE which may or may not cause USH2B Hmani 99; Pieke Dahl 93
CRV, HERNS, HVR;
192315 		3p21.3-p21.1 dominant hereditary vascular retinopathy with Raynaud phenomenon and migraine [Entrez] linkage mapping; mapped in Dutch, Chinese and American families with disease symbols HVR, HERNS and CRV, respectively; symptoms 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
GNAT1;
139330 		3p21.31 dominant congenital stationary night blindness, Nougaret type; protein: rod transducin alpha subunit [Entrez] candidate gene; Gly38Asp mutation in a single large French family, may affect taste perception, attenuates visual signaling Dryja 96; Maumenee-Hussels 96; Muradov 00
ATXN7, ADCA2, OPCA3, SCA7;
164500 		3p14.1 dominant spinocerebellar ataxia w/ macular dystrophy or retinal degeneration; protein: ataxin 7 [Entrez] 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;
209900, 608845 		3q11.2 recessive Bardet-Biedl syndrome; protein: ADP-ribosylation factor-like 6 [Entrez] 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 Beales 97; Beales 01; Chiang 04; Fan 04; Ingley 99; Jacobs 99; Sheffield 94; Woods 99; Young 98
IQCB1, NPHP5, SLSN5;
609237, 609254 		3q13.33 recessive Senior-Loken syndrome; protein: IQ motif containing B1 protein [Entrez] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; IQCB1 protein interacts with RPGR and calmodulin proteins in photoreceptor connecting cilia Otto 05
NPHP3, SLSN3;
604387, 606995, 608002 		3q22.1 recessive Senior-Loken syndrome; recessive nephronophthisis, adolescent; protein: nephronophthisis 3 protein [Entrez] 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
RHO, OPN2, RP4;
180380 		3q22.1 dominant retinitis pigmentosa; dominant congenital stationary night blindness; recessive retinitis pigmentosa; protein: rhodopsin [Entrez] 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
RP5  same as RHO not distinct from RHO/RP4 linkage mapping, mutation screening; mapping error; 'RP5' withdrawn Farrar 92
CLRN1, USH3, USH3A;
276902, 606397 		3q25.1 recessive Usher syndrome, type 3; protein: clarin-1 [Entrez] 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 Adato 99; Adato 02; Joensuu 01; Sankila 95
OPA1;
165500, 605290 		3q29 dominant optic atrophy, Kjer type; dominant optic atrophy with sensorineural hearing loss; protein: OPA1 protein [Entrez] 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; Johnston 97; Lunkes 95; Payne 04; Pesch 01; Seller 97; Toomes 01; Votruba 97; Votruba 98

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Chromosome 4

Symbols;
OMIM Numbers 		Location Diseases;
Protein 		How Identified;
Comments 		References
STGD4;
603786 		4p dominant Stargardt-like macular dystrophy [Entrez] linkage mapping; Caribbean family Kniazeva 99
MCDR2;
608051 		4p16.3-p15.2 dominant macular dystrophy, bull's-eye [Entrez] linkage mapping; single British family; locus overlaps with STDG4 Michaelides 03
PDE6B, CSNB3;
163500, 180072 		4p16.3 recessive retinitis pigmentosa; dominant congenital stationary night blindness; protein: rod cGMP phosphodiesterase beta subunit [Entrez] linkage mapping, candidate gene; same as retinal degeneration in the rd mouse, r 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; 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 [Entrez] 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
CC2D2A  4p15.33 recessive retinitis pigmentosa and mental retardation; protein: coiled-coil and C2 containing 2A protein [Entrez] 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 Noor 08
PROM1, PROML1;
604365 		4p15.32 recessive retinitis pigmentosa with macular degeneration; protein: prominin (mouse)-like 1 [Entrez] homozygosity mapping, candidate gene; Indian and Pakistani families; severe visual impairment with onset of degeneration in early childhood; prominin is a 5-transmembrane glycoprotein associated with plasma membrane evaginations in rod outer segments Maw 00; Zhang 07
CNGA1, CNCG, CNCG1;
123825 		4p12 recessive retinitis pigmentosa; protein: rod cGMP-gated channel alpha subunit [Entrez] 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 [Entrez] homozygosity mapping, linkage mapping; symptoms include diabetes, optic atrophy and deafness; three Jordanian families; distinct from WFS1 El-Shanti 00
MTP, ABL;
200100, 157147 		4q23 recessive abetalipoproteinemia; protein: microsomal triglyceride transfer protein [Entrez] candidate gene; multiple lipid abnormalities including pigmentary retinal degeneration Narcisi 95; Sharp 93; Shoulders 93
BBS7, BBS2L1;
209900, 607590 		4q27 recessiveBardet Biedl syndrome; protein: BBS7 protein [Entrez] candidate gene; homozygous mutations in several familes; protein of unknown function with sequence similarity to BBS2 Badano 03
BBS12, FLJ35630;
209900, 610683 		4q27 recessive Bardet-Biedl syndrome; protein: BBS12 protein [Entrez] homozygosity mapping; mapping in Gypsy families and mutations in other famiiles; 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
RP29  4q32-q34 recessive retinitis pigmentosa [Entrez] linkage mapping; consanguineous Pakistani family Hameed 01
LRAT;
604863 		4q32.1 recessive retinitis pigmentosa, severe early-onset; recessive Leber congenital amaurosis; protein: lecithin retinol acyltransferase [Entrez] 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
CYP4V2, BCD;
210370 		4q35.2 recessive Bietti crystalline corneoretinal dystrophy; protein: cytochrome P450 4V2 [Entrez] 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 Jiao 00; Li 04

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Chromosome 5

Symbols;
OMIM Numbers 		Location Diseases;
Protein 		How Identified;
Comments 		References
MCDR3  5p15.33-p13.1 dominant macular dystrophy [Entrez] linkage mapping; single British family; clincally similar to North Carolina macular dystrophy, MCDR1 Michaelides 03a
VCAN, CSPG2, ERVR, WGN1;
118661, 143200 		5q14.3 dominant Wagner disease and erosive vitreoretinopathy; protein: chondroitin sulfate proteoglycan 2 (versican) [Entrez] 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 [Entrez] linkage mapping, candidate gene; five unrelated families with mild RP and possible dental abnormalities - but without seizures - and limited to females; 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 McMillan 02; Nakayama 02; Pieke-Dahl 00; Weston 04
BSMD  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
PDE6A;
180071 		5q33.1 recessive retinitis pigmentosa; protein: cGMP phosphodiesterase alpha subunit [Entrez] 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;
604096 		5q35.3 recessive congenital stationary night blindness; protein: metabotropic glutamate receptor 6 [Entrez] 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
C2;
217000 		6p21.32 age-related macular degeneration, complex etiology; protein: complement component 2 [Entrez] 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 [Entrez] association study; see C2 for details; properdin is a component of the alternate pathway for complement activation Gold 06
TULP1, RP14;
600132, 602280 		6p21.31 recessive retinitis pigmentosa; recessive Leber congenital amaurosis; protein: tubby-like protein 1 [Entrez] 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 Banerjee 98; Banerjee 98a; Gu 98; Hagstrom 98; Hagstrom 01; Hanein 04; Knowles 94; Milam 00
PRPH2, RDS, RP7;
169150, 179605, 608133, 608161 		6p21.2 dominant retinitis pigmentosa; dominant macular dystrophy; digenic retinitis pigmentosa with ROM1; dominant adult vitelliform macular dystrophy; protein: peripherin 2 [Entrez] linkage mapping, candidate gene; dominant mutations; in addition, heterozygote PRPH2 and ROM1 mutations cause digenic disease; accounts for 5% of dominant RP; same gene affected in rds mouse; photoreceptor rescue in mouse model; USH1H is a digenic form of Usher syndrome Ali 00; Arikawa 92; Connell 90; Connell 91; Dryja 97; Farrar 91; Felbor 97a; Jordan 92a; Kajiwara 91; Kajiwara 94; Travis 91; Travis 91a
GUCA1A, COD3, GCAP1;
602093, 600364 		6p21.1 dominant cone dystrophy; dominant cone-rod dystrophy; protein: guanylate cyclase activating protein 1A [Entrez] linkage mapping, candidate gene; British family with constitutively active mutant; variable phenotype within families Downes 01; Payne 97; Payne 98; Sokal 98
GUCA1B, GCAP2;
602275 		6p21.1 dominant retinitis pigmentosa; dominant macular dystrophy; protein: guanylate cyclase activating protein 1B [Entrez] candidate gene; Gly157Arg mutation in Japanese familes with variable phenotype; no pathologic changes found in 400 British patients with dominant retinopathies Payne 99a; Sato 04
BCMAD  6p12.3-q16 dominant macular dystrophy, benign concentric annular linkage mapping; Dutch family; suggestive evidence for mutation in IMPG1 [Entrez] van Lith-Verhoeven 04
RP25;
602772 		6p12.1-q15 recessive retinitis pigmentosa [Entrez] homozygosity mapping, linkage mapping; Spanish and Pakistani families; accounts for 10 to 20% of recessive RP in Spain; mapped to region containing GABA receptors; common cause of arRP in Chinese families; localized to 2.7 cM and possibly a 100 kb deletion Abd El-Aziz 06; Abd El-Aziz 08; Barragán 08; Khaliq 99; Ruiz 98
COL9A1;
120210 		6q13 recessive Stickler syndrome; dominant multiple epiphyseal dysplasia (MED); protein: collagen, type IX, alpha-1 [Entrez] 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;
603649, 606629 		6q13 dominant cone-rod dystrophy; protein: regulating synaptic membrane exocytosis protein 1or rab3A-interacting molecule [Entrez] 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 Johnson 03; Kelsell 98; Kniazeva 99a; Wang 97; Wang 00
MCDR1, NCMD, PBCRA1;
136550, 600790 		6q14-q16.2 dominant macular dystrophy, North Carolina type; dominant progressive bifocal chorioretinal atrophy [Entrez] 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) Kelsell 95; Rabb 98; Sauer 97a; Small 92; Small 97; Small 99; Yang 08
ELOVL4, STGD3;
600110 		6q14.1 dominant macular dystrophy, Stargardt-like; protein: elongation of very long fatty acids protein [Entrez] 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 Edwards 01; Griesinger 00; Kniazeva 99a; Kniazeva 00; Stefko 00; Stone 94; Zhang 99; Zhang 01
LCA5;
604537, 611408 		6q14.1 recessive Leber congenital amaurosis; protein: lebercilin [Entrez] 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; although LCA5 mutations might, theoretically, cause complex ciliopathies, null mutations affect the retina only den Hollander 07; Dharmaraj 00
AHI1, JBTS3;
608629, 608894 		6q23.3 recessive Joubert syndrome; protein: Abelson helper integration site 1 [Entrez] 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 [Entrez] linkage mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cereberal 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 [Entrez] deletion mapping OMIM 08

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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 [Entrez] linkage mapping; distinct from RP9 Inglehearn 94a; Kremer 94
BBS9, PTHB1;
209900, 607968 		7p14.3 recessive Bardet Biedl syndrome; protein: parathyroid hormone-responsive B1 protein [Entrez] 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
RP9, PAP1, PIM1K;
180104, 607331 		7p14.3 dominant retinitis pigmentosa; protein: RP9 protein or PIM1-kinase associated protein 1 [Entrez] 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
PEX1, IRD;
202370, 214100, 266510, 602136 		7q21.2 recessive Refsum disease, infantile form; protein: peroxisome biogenesis factor 1 [Entrez] candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cereberal 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
IMPDH1, LCA11, RP10;
146690, 180105 		7q32.1 dominant retinitis pigmentosa; dominant Leber congenital amaurosis; protein: inosine monophosphate dehydrogenase 1 [Entrez] linkage mapping, candidate gene; Spanish, Scottish and American families; the gene is one of two widely-expressed isoforms in humans; IMPDH1 is a highly-conserved enzyme, found in bacteria and eukaryotes, which catalyzes the rate-limiting step in de novo guanine synthesis; a common mutation, Asp226Asn, is at a site conserved in all species and accounts for at least 2% of all dominant RP; mutations affect polynucleotide binding 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
OPN1SW, BCP, CBT;
190900 		7q32.1 dominant tritanopia; protein: blue cone opsin [Entrez] candidate gene; several mutations; progressive retinopathy not observed Fitzgibbon 94; Nathans 86; Nathans 92; Nathans 93; Weitz 92; Weitz 92a

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Chromosome 8

Symbols;
OMIM Numbers 		Location Diseases;
Protein 		How Identified;
Comments 		References
CORD9  8p12-q11 recessive cone-rod dystrophy [Entrez] linkage mapping; consanguineous Brazilian family; RP1 excluded Danciger 01
RP1, ORP1;
180100, 603937 		8q12.1 dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: RP1 protein [Entrez] 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 familes 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 [Entrez] candidate gene; TPA mutations found in patients with vitamin E deficiency Yokota 96
OPA6, ROA1;
258500 		8q21-q22 recessive optic atrophy [Entrez] linkage mapping; large, multiplex, consanguineous French family Barbet 03
PXMP3, PAF1, PEX2, PMP35;
170993, 214100, 266510 		8q21.13 recessive Refsum disease, infantile form; protein: peroxisomal membrane protein 3 [Entrez] candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cereberal 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;
262300, 605080 		8q21.3 recessive achromatopsia Pingelapese; recessive, progressive cone dystrophy; protein: cone cyclic nucleotide-gated cation channel beta 3 subunit [Entrez] 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 Kohl 00; Kohl 02; Kohl 05; Michaelides 04a; Milunsky 99; Nishiguchi 05; Sidjanin 02; Sundin 00; Winick 99
VMD1;
153840 		not 8q24 dominant macular dystrophy, atypical vitelliform [Entrez] 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;
607604 		9p24.2 recessive cone dystrophy with supernormal rod electroretinogram; protein: potasium channel subfamily V member 2 [Entrez] 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 [Entrez] 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; protein of unknown function is widely expressed and may be involved in transcription, splicing and/or cell-cycle regulation Chakarova 07; Papaioannou 05
INVS, NPHP2;
243305, 602088 		9q31.1 recessive Senior-Loken syndrome; recessive nephronophthisis; protein: inverson [Entrez] 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
DFNB31, USH2D, WHRN;
607084, 607928, 611383 		9q32 recessive Usher syndrome, type 2; recessive deafness without retinitis pigmentosa; protein: whirlin [Entrez] 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 06; Mburu 03; Mustapha 02
TLR4, ARMD10;
603030, 603075, 611488 		9q33.1 age-related macular degeneration, complex etiology; protein: toll-like receptor 4 [Entrez] linkage mapping, association study; linkage mapping indicates an AMD locus at this site, and a polymorphic Asp299Gly amino acid substitution in TLR4 showed associated with life-time risk of AMD in Caucasians, but a subsequent study did not replicate this finding; toll-like receptors recognize microorganisms and then initiate immune response; TLR4 produces a widely-expressed transmembrane protein which recognizes lipopolysaccharide from Gram-negative bacteria; the Gly allele is protective against atherosclerosis Edwards 08; Zareparsi 05a
TRIM32, BBS11, HT2A;
209900, 254110, 602290 		9q33.1 recessive Bardet-Biedl syndrome; recessive limb-girdle muscular dystrophy; protein: tripartite motif-containing protein 32 [Entrez] 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
RP8, RP21;
500004 		not 9q34-qter dominant retinitis pigmentosa with sensorineural deafness [Entrez] linkage mapping; later mapped to MT-TS2 in mitochondrion; 'RP21' withdrawn Kenna 97; Mansergh 99
JBTS1, CORS1;
213300 		9q34 recessive Joubert syndrome [Entrez] 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 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 [Entrez] homozygosity mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cereberal 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
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 [Entrez] 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 [Entrez] homozygosity mapping; 1% prevalence in isolated Iranian population Ghiasvand 98; Ghiasvand 00
PCDH15, DFNB23, USH1F;
276900, 602083, 605514, 609533 		10q21.1 recessive Usher syndrome, type 1f; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with CDH23; protein: protocadherin 15 [Entrez] 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 is designated "USH1H" Ahmed 01; Ahmed 03; Alagramam 01; Alagramam 01a; Wayne 97
USH1H;
276900, 611581 		10q21.1-q22.1 digenic Usher syndrome, type 1h animal model, candidate genes; USH1H is the symbol for Usher syndrome caused by heterozygous mutations in CDH23 and PCDH15 (digenic inheritance); heterozygous knockout mice suggested this possibility; mutations in PRPH2 (RDS) and ROM1 are also digenic Zheng 04
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 [Entrez] 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 is designated "USH1H" Astuto 02; Bolz 01; Bork 01; Di Palma 01; Wayne 96
RGR;
600342 		10q23.1 recessive retinitis pigmentosa; dominant choroidal sclerosis; protein: RPE-retinal G protein-coupled receptor [Entrez] 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
RBP4;
180250 		10q23.33 recessive RPE degeneration; protein: retinol-binding protein 4 [Entrez] candidate gene; RPE atrophy with night blindness and reduced visual acuity; carrier protein for serum retinol Seeliger 99
PAX2, ONCR;
120330, 167409 		10q24.31 dominant renal-coloboma syndrome; protein: paired homeotic gene 2 protein [Entrez] candidate gene; optic nerve colobomas with renal abnormalities; similar malformations in Pax2(1Neu) mouse mutation Favor 96; Sanyanusin 95; Sanyanusin 95a
HTRA1, ARMD7, PRSS11;
602194, 603075, 610149 		10q26.13 age-related macular degeneration, complex etiology; protein: HtrA serine peptidase 1 [Entrez] 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
ARMS2, ARMD8, LOC387715;
603075, 611313 		10q26.13 age-related macular degeneration, complex etiology; protein: hypothetical protein with Entrez ID 387715 [Entrez] 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
OAT;
258870 		10q26.13 recessive gyrate atrophy; protein: ornithine aminotransferase [Entrez] candidate gene; many mutations reported Valle 00

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Chromosome 11

Symbols;
OMIM Numbers 		Location Diseases;
Protein 		How Identified;
Comments 		References
TEAD1, AA, TCF13, TEF1;
108985, 189967 		11p15.3 dominant atrophia areata; protein: TEA domain family member 1 [Entrez] 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 [Entrez] 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 Ahmed 02; Ayyagari 95; Bitner-Glindzicz 00; Heckenlively 95; Keats 94; Noun 93; Nouri 94; Ouyang 02; Smith 92; Verpy 00
EVR3;
605750 		11p13-p12 dominant familial exudative vitreoretinopathy [Entrez] linkage mapping; large Scottish family Downey 01
CORS2, JBTS2;
608091 		11p12-q13.3 recessive Joubert syndrome [Entrez] 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
ROM1;
180721 		11q12.3 dominant retinitis pigmentosa; digenic retinitis pigmentosa with PRPH2; protein: retinal outer segment membrane protein 1 [Entrez] 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
BEST1, TU15B, VMD2;
153700, 607854 		11q12.3 dominant macular dystrophy, Best type; dominant vitreoretinochoroidopathy; recessive bestrophinopathy; protein: bestrophin 1 [Entrez] 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" Burgess 08; Forsman 92; Graff 94; Lotery 00a; Marmorstein 00; Marquardt 98; Nichols 94; Petrukhin 98; Stone 92a; Sun 02;