Genes and Mapped Loci Causing Retinal Diseases

Listed by chromosome:

[ 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | X | mitochondrion ]

Total entries = 223. If you know the symbol but not the chromosome, please use the Symbols list to find a gene.

(Last updated February 5, 2010)

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
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
RP32; 609913	1p21.2-p13.3	recessive retinitis pigmentosa, severe [Entrez]	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 [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, RP39; 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; knock-in mouse shows AMD phenotype	Edwards 98; Héon 96; Héon 96a; Kermani 99; Fu 07; 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	same as SNRNP200	dominant retinitis pigmentosa [Entrez]	linkage mapping, candidate gene; Chinese family, confirmed to be the same as SNRNP200	Zhao 09; 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
CNNM4, ACDP4; 607805	2q11.2	recessive Jalili syndrome; protein: cyclin M4 [Entrez]	linkage mapping, candidate gene; Jalili syndrome involves cone-rod dystrophy and amelogenesis imperfecta (abnormal teeth); more than 7 independently-ascertained families; 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	Jalili 89; Parry 09; Polok 09
SNRNP200, ASCC3L1, BRR2, HECIC2, RP33; 601664, 610359	2q11.2	dominant retinitis pigmentosa; protein: small nuclear ribonucleoprotein 200kDa (U5) [Entrez]	linkage mapping, candidate gene; Chinese families - one is the family in which RP33 was mapped; 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	Li 09; Zhao 09
MERTK, RP38; 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; recessive cone-rod dystrophy with inner retinopathy; protein: ceramide kinase-like protein [Entrez]	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 apopotosis; CERKL is expressed in retinal ganglion cells among other tissues; CERKL mutations cause widespread retinal degeneration with maculopathy	Aleman 09; 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
RP5	same as RHO	not distinct from RHO/RP4	linkage mapping, mutation screening; mapping error; 'RP5' withdrawn	Farrar 92
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
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
PDE6B, CSNB3, RP40; 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; recessive Joubert syndrome; 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; 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	Gorden 08; Noor 08
MCDR2; 608051	same as PROM1	dominant macular dystrophy, bull's-eye [Entrez]	linkage mapping; single British family; recurent Arg373Cys (C→T) mutation in dominant families	Michaelides 03; Yang 08a
STDG4; 603786	same as PROM1	dominant Stargardt-like macular dystrophy [Entrez]	linkage mapping; Caribbean family; recurrent Arg373Cys (C→T) mutation in dominant families	Kniazeva 99; Yang 08a
PROM1, PROML1, RP41; 603786, 604365, 608051	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 [Entrez]	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 mutation in human families disrupts disk morphogenesis in mice	Maw 00; Yang 08a; 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
TLR3; 603029	4q35.1	age-related macular degeneration, complex etiology; protein: toll-like receptor 3 [Entrez]	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	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; 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	Ebermann 09; Hilgert 09; McMillan 02; Nakayama 02; Pieke-Dahl 00; Weston 04
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
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	6p21.1	dominant retinitis pigmentosa; dominant macular dystrophy; digenic retinitis pigmentosa with ROM1; dominant adult vitelliform macular dystrophy; dominant cone-rod 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; Nakazawa 94a; 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
EYS, RP25, SPAM; 602772	6q12	recessive retinitis pigmentosa; protein: eyes shut/spacemaker (Drosophila) homolog [Entrez]	homozygosity mapping, linkage mapping, candidate gene; Spanish and Pakistani families; accounts for 10 to 20% of recessive RP in Spain 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; 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 [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; 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 [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, 605512	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; Lagali 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 09

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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
KLHL7, RP42; 611119	7p15.3	dominant retinitis pigmentosa; protein: kelch-like 7 protein (Drosophila) [Entrez]	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
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; 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 [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
ADAM9, CORD9, MCMP, MDC9; 602713	8p11.23	recessive cone-rod dystrophy; protein: ADAM metallopeptidase domain 9 (meltrin gamma) protein [Entrez]	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	Danciger 01; Parry 09a; Weskamp 02
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 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
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
INPP5E, CORS1, JBTS1; 213300, 610156	9q34.3	recessive Joubert syndrome; recessive MORM syndrome; protein: inositol polyphosphate-5-phosphatase E [Entrez]	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 [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
RBP3, IRBP; 180290	10q11.22	recessive retinitis pigmentosa; protein: retinol binding protein 3, interstitial [Entrez]	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 [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
PDE6C, PDEA2; 600827	10q23.33	recessive cone dystrophy, early onset; recessive complete and incomplete achromatopsia; protein: cGMP-specific cone phosphodiesterase 6C alpha prime protein [Entrez]	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
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
PDZD7, PDZK7	10q24.31	recessive non-syndromic deafness; protein: PDZ domain 7 containing protein [Entrez]	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; gene interacts with DFNB31 and USH1C proteins	Schneider 09
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"; same as cmr dog model	Burgess 08; 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
BBS1; 209900, 209901	11q13	recessive Bardet-Biedl syndrome; protein: BBS1 protein [Entrez]	linkage mapping, candidate gene; approximately 40% of BBS families; ubiquitously-expressed gene of unknown function but weak similarity to BBS2; common Met390Arg mutation; evidence does not support triallelic inheritance with BBS2, BBS4 or MKKS	Beales 97; Bruford 97; Cornier 95; Katsanis 99; Katsanis 01; Leppert 94; Mykytyn 02; Woods 99; Young 99a
VRNI; 193235	11q13	dominant neovascular inflammatory vitreoretinopathy [Entrez]	linkage mapping; distinct from EVR1	Stone 92
CABP4; 608965	11q13.1	recessive congenital stationary night blindness; recessive congenital cone-rod synaptic disease; protein: calcium binding protein 4 [Entrez]	animal model, candidate gene; recessive mutations in two families; 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	Haeseleer 04; Littink 09; Zeitz 06
LRP5, EVR4, HBM, OPPG; 259770, 603506, 601884	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 [Entrez]	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 is in the Wnt signaling pathway as is FZD4	Jiao 04; Price 96; Toomes 04; Toomes 04a
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 [Entrez]	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	11q14.1	recessive non-syndromic optic atrophy; protein: transmembrane protein 126A [Entrez]	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
FZD4, EVR1, FEVR; 133780, 604579	11q14.2	dominant familial exudative vitreoretinopathy; protein: frizzled-4 Wnt receptor homolog [Entrez]	linkage mapping, candidate gene; Criswick-Schepens syndrome; distinct from VRNI; protein is a 7 transmembrane-spanning member of the Wnt (Drosophila wingless) receptor signaling pathway, possibly invloved in retinal angiogenesis	Li 92; Li 92a; Müller 94; Robitaille 02
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 [Entrez]	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 associated with 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 [Entrez]	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 [Entrez]	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
COL2A1, AOM, STL1; 108300, 120140, 132450, 156550, 183900, 184250, 200610, 609508	12q13.11	dominant Stickler syndrome, type I; dominant Wagner syndrome; dominant epiphyseal dysplasia; protein: collagen, type II, 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; 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	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 [Entrez]	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 RDH12	Cideciyan 00; Nakamura 00; Simon 96; Yamamoto 99
BBS10, FLJ23560; 209900, 610148	12q21.2	recessive Bardet-Biedl syndrome; protein: BBS10 (C12orf58) chaperonin [Entrez]	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; 610142, 610188, 610189, 611134	12q21.32	recessive Senior-Loken syndrome; recessive Joubert syndrome; recessive Leber congenital amaurosis; recessive Meckel syndrome; protein: centrosomal protein 290 kDa [Entrez]	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; McEwen 07; Menotti-Raymond 07; Sayer 06; Valente 06

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Chromosome 13
Symbols; OMIM Numbers	Location	Diseases; Protein	How Identified; Comments	References
RB1; 180200	13q14.2	dominant germline or somatic retinoblastoma; benign retinoma; pinealoma; osteogenic sarcoma; protein: retinoblastoma protein 1 [Entrez]	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 [Entrez]	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	14	recessive rod monochromacy or achromatopsia [Entrez]	uniparental isodisomy; total color blindness or 'day blindness'	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 [Entrez]	linkage mapping; English family	Francis 03
NRL, RP27; 162080	14q11.2	dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: neural retina lucine zipper [Entrez]	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
RPGRIP1, LCA6; 605446	14q11.2	recessive Leber congenital amaurosis; recessive cone-rod dystrophy; protein: RP GTPase regulator-interacting protein 1 [Entrez]	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); same gene affected in cord1 longhaired dachshund dog; high sequence similarity to RPGRIP1L	Boylan 00; Dryja 01; Hameed 03; Hanein 04; Hong 01; Mavlyutov 02; Mellersh 06; Roepman 00
RDH12; 608830	14q24.1	recessive Leber congenital amaurosis with severe childhood retinal dystrophy; dominant retinitis pigmentosa; protein: retinol dehydrogenase 12 [Entrez]	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 recesssive LCA; protein is involved in visual cycle and has unusual dual specificity for all-trans-retinols and cis-retinols; same pathway as RDH5; large North Carolina family with dominant mutation	Fingert 08; Haeseleer 02; Janecke 04; Perrault 04
LCA3; 604232, 609868	same as SPATA7	recessive Leber congenital amaurosis [Entrez]	homozygosity mapping; consanguineous Saudi Arabian family; sequencing shows no mutations in RDH12 (DW Stockton, personal communication)	Stockton 98; Wang 09
SPATA7, HSD3; 604232, 609868	14q31.3	recessive LCA; recessive RP, juvenile; protein: spermatogenesis associated protein 7 [Entrez]	homozygosity mapping, sequencing; Saudi Arabian, Dutch and other families including original LCA3 family; SPATA7 protein found in spermatocytes and multiple retinal layers; not a ciliary protein	Wang 09; Zhang 03
USH1A, USH1; 276900	not 14q32	recessive Usher syndrome, French [Entrez]	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; 209900, 608132	14q32.11	recessive Bardet-Biedl syndrome; protein: tetratricopeptide repeat domain 8 [Entrez]	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	Ansley 03
FBLN5, ARMD3; 603075, 604580, 608895	14q32.12	familial macular dystrophy, age-related; protein: fibulin 5 [Entrez]	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
NR2E3, ESCS, PNR, RP37; 268100, 604485, 611131	15q23	recessive enhanced S-cone syndrome (ESC); recessive retinitis pigmentosa in Portuguese Crypto Jews; Goldmann-Favre syndrome; dominant retinitis pigmentosa; combined dominant and recessive retinopathy; protein: nuclear receptor subfamily 2 group E3 [Entrez]	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 rd7 mouse; recurrent Gly56Arg mutation causes dominant RP; a recessive mutation in trans to the Gly56Arg mutation causes ESC	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 [Entrez]	linkage mapping; inbred Pakistani family	Mitchell 98
BBS4; 209900, 600374	15q24.1	recessive Bardet-Biedl syndrome; protein: BBS4 protein [Entrez]	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
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 [Entrez]	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
ABCC6, ARA, MRP6, PXE; 177850, 264800, 603234	16p13.11	recessive pseudoxanthoma elasticum; dominant pseudoxanthoma elasticum; protein: ATP-binding casette, subfamily C, member 6 [Entrez]	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 [Entrez]	homozygosity mapping; Indian families	Finckh 98
CLN3, JNCL; 204200	16p11.2	recessive Batten disease (ceroid-lipofuscinosis, neuronal 3), juvenile; protein: Batten disease protein [Entrez]	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
BBS2; 209900, 606151	16q12.2	recessive Bardet-Biedl syndrome; protein: BBS2 protein [Entrez]	linkage mapping, candidate gene; large Bedouin family and approximately 20% of BBS families; protein of unknown function with sequence similarity to BBS7; may require triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele	Beales 97; Beales 01; Bruford 97; Katsanis 01; Kwitek-Black 93; Nishimura 01; Woods 99
RPGRIP1L, JBTS7, KIAA1005, MKS5, NPHP8; 610937, 611560, 611561	16q12.2	recessive Joubert syndrome; recesssive Meckel syndrome; protein: RP GTPase regulator-interacting 1 like protein [Entrez]	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
CNGB1, CNCG2, CNCG3L, GAR1, GARP; 600724	16q13	recessive retinitis pigmentosa; protein: rod cGMP-gated channel beta subunit [Entrez]	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
CDH3, CDHP, PCAD; 114021, 601553	16q22.1	recessive macular dystrophy, juvenile with hypotrichosis; protein: cadherin 3, type 1, placental [Entrez]	homozygosity mapping, candidate gene; mutations found in two extended, unrelated, consanguineous Arab Israeli (Druze) families; invloves early hair loss followed by progressive macular degeneration culminating in blindness; cadherins are calcium-dependent cell-cell adhesion factors	Indelman 02; Sprecher 01
FHASD; 609218	16q23.2-q24.2	recessive foveal hypoplasia and anterior segment dysgenesis [Entrez]	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; 215500	17p13	dominant central areolar choroidal dystrophy [Entrez]	linkage mapping	Hughes 98; Lotery 96
RCD2; 600977, 601251	same as GUCY2D	dominant cone-rod dystrophy, progressive; recessive cone-rod dystrophy [Entrez]	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
GUCY2D, CORD6, LCA1, RETGC, RETGC1; 204000, 600179, 601777	17p13.1	recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: retinal-specific guanylate cyclase [Entrez]	linkage mapping, candidate gene; North African and other families; causes 10 to 20% of recessive LACE and up to 40% of dominant COD or CORD; same gene affected in rd/rd chicken; lent viral expression of GUYED 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
AIPL1, LCA4; 604392, 604393	17p13.2	recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: arylhydrocarbon-interacting receptor protein-like 1 [Entrez]	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; 600977, 608921	17p13.2	dominant cone-rod dystrophy; protein: phosphatidylinositol transfer membrane-associated family member 3 [Entrez]	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
PRPF8, PRPC8, RP13; 600059, 607300	17p13.3	dominant retinitis pigmentosa; protein: human homolog of yeast pre-mRNA splicing factor C8 [Entrez]	linkage mapping, candidate gene; South African and European families; protein is a highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex which includes PRPF3 (RP18) and PRPF31 (RP11)	Goliath 95; Greenberg 94; Kojis 96; McKie 01; Tarttelin 96
CORD4	17q	cone-rod dystrophy [Entrez]	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 [Entrez]	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
CA4, RP17; 600852, 114760	17q23.2	dominant retinitis pigmentosa; protein: carbonic anhydrase IV [Entrez]	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
USH1G, SANS; 276900, 606943, 607696	17q25.1	recessive Usher syndrome; protein: human homolog of mouse scaffold protein containing ankyrin repeats and SAM domain [Entrez]	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
RGS9; 604067	17q24.1	recessive delayed cone adaptation; protein: regulator of G-protein signalling 9 [Entrez]	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; 610598, 610599	17q25.1	recessive retinitis pigmentosa; protein: progressive rod-cone degneration protein [Entrez]	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	Goldstein 06; Zangerl 06
FSCN2, RP30; 607643, 607921	17q25.3	dominant retinitis pigmentosa; dominant macular dystrophy; protein: retinal fascin homolog 2, actin bundling protein [Entrez]	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

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Chromosome 18
Symbols; OMIM Numbers	Location	Diseases; Protein	How Identified; Comments	References
OPA4; 605293	18q12.2-q12.3	dominant optic atrophy, Kjer type [Entrez]	linkage mapping; American family of German descent; previously linked to Kidd blood group	Kerrison 99; Kivlin 83
CORD1; 600624	18q21.1-q21.3	cone-rod dystrophy; de Grouchy syndrome [Entrez]	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 [Entrez]	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; 610362, 610381	19p13.3	cone-rod dystrophy, isolated; age-related macular degeneration, isolated; protein: retina and anterior neural fold homeobox 2 transcription factor [Entrez]	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
RGS9BP, R9AP, RGS9; 607814	19q13.12	recessive delayed cone adaptation; protein: regulator of G-protein signalling 9-binding protein [Entrez]	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, 602225	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 [Entrez]	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	Bellingham 97; Evans 94; Evans 95; Freund 97; Freund 98; Furukawa 99; Gregory 94; Hanein 04; Li 98; Lotery 00; Sohocki 98; Swain 97; Swaroop 99
OPA3, MGA3; 258501	19q13.32	recessive optic atrophy with ataxia and 3-methylglutaconic aciduria; protein: OPA3 protein [Entrez]	linkage mapping, candidate gene; Iraqi-Jewish families; protein may play a role in mitochondrial processes; ubiquitously expressed, prominently in skeletal muscle, kidney and brain	Anikster 01; Nystuen 98
PRPF31, PRP31, RP11; 600138, 606419	19q13.42	dominant retinitis pigmentosa; protein: human homolog of yeast pre-mRNA splicing factor 31 [Entrez]	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; protein is a highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex which includes PRPF3 (RP18) and PRPF8 (RP13)	Al-Maghtheh 94; Al-Maghtheh 96; McGee 97; Sullivan 06a; Vithana 98; Vithana 01; Vithana 03

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Chromosome 20
Symbols; OMIM Numbers	Location	Diseases; Protein	How Identified; Comments	References
JAG1, AGS; 118450, 601920	20p12.2	dominant Alagille syndrome; protein: Jagged protein 1 [Entrez]	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 [Entrez]	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
IDH3B; 604526	20p13	recessive retinitis pigmentosa; protein: NAD(+)-specific isocitrate dehydrogenase 3 beta [Entrez]	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 [Entrez]	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

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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 [Entrez]	linkage mapping	Chäib 97

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Chromosome 22
Symbols; OMIM Numbers	Location	Diseases; Protein	How Identified; Comments	References
OPA5; 610708	22q12.1-q13.1	dominant optic atrophy [Entrez]	linkage mapping; two French familes with phenotypes similar to OPA1	Barbet 05
TIMP3, SFD; 136900, 188826	22q12.3	dominant Sorsby's fundus dystrophy; protein: tissue inhibitor of metalloproteinases-3 [Entrez]	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

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X Chromosome
Symbols; OMIM Numbers	Location	Diseases; Protein	How Identified; Comments	References
RP23; 300424	Xp22	X-linked retinitis pigmentosa [Entrez]	linkage mapping; distinct from RP2 and RP3	Hardcastle 00
RS1, XLRS1; 312700	Xp22.13	retinoschisis; protein: retinoschisin [Entrez]	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 [Entrez]	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 [Entrez]	candidate gene; exons 20-28 involved in retinal disease	D'Souza 95; Pillers 93; Ray 92
OPA2; 311050	Xp11.4-p11.2	X-linked optic atrophy [Entrez]	linkage mapping; large Dutch family	Assink 97
CSNB4	same as NYX	X-linked congenital stationary night blindness	linkage mapping, mutation screening; mutation found in NYX; 'CSNB4' also refers to rhodopsin	Hardcastle 97; Pusch 00
NYX, CSNB1; 300278, 310500	Xp11.4	X-linked congenital stationary night blindness; protein: nyctalopin [Entrez]	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	Bech-Hansen 00; Bergen 95; Boycott 98; Gal 89; 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
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 [Entrez]	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; 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; Buraczynska 97; Fujita 97; Kirschner 99; Linari 99; Mavlyutov 02; Meindl 96; Musarella 90; Ott 90; Roepman 96; Roepman 96a; Rozet 02; Vervoort 00; Yang 02; Zeiss 00; Zhang 02; Zito 03
PRD; 312550	Xp11.3-p11.23	retinal dysplasia, primary [Entrez]	linkage mapping; linked to Norrie disease, may be same locus	Ravia 93
NDP, EVR2; 310600, 305390	Xp11.3	Norrie disease; familial exudative vitreoretinopathy; Coats disease; protein: Norrie disease protein [Entrez]	linkage mapping, candidate gene; expressed in multiple tissues, function unknown; some mutations cause FEVR but evidence of genetic heterogeneity; associated with retinopathy of prematurity; somatic mutation causes Coats disease	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 [Entrez]	linkage mapping; CACNA1F mutations found in ÅIED-like patients and later in the original ÅIED family	Alitalo 91; Glass 93; Jalkanen 07; Schwartz 91; Wutz 02
CORDX3; 300476	same as CACNA1F	X-linked progressive cone-rod dystrophy	linkage mapping; large Finish family, later shown to have a mutation in CACNA1F	Jalkanen 03; Jalkanen 06
CACNA1F, CSNB2, CSNBX2; 300071, 300110, 300476	Xp11.23	X-linked congenital stationary night blindness, incomplete; ÅIED-like disease; severe congenital stationary night blindness; X-linked progressive cone-rod dystrophy; protein: L-type voltage-gated calcium channel alpha-1 subunit [Entrez]	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 ÅIED-like patients and later found in the original ÅIED family; associated with optic atrophy in a Japanese family	Aldred 92; Bech-Hansen 92; Bech-Hansen 98; Berger 95; Boycott 01; Hope 05; Jalkanen 06; Jalkanen 07; Morgans 01; Nakamura 03; Strom 98; Wutz 02
RP2; 312600	Xp11.23	X-linked retinitis pigmentosa, recessive; X-linked retinitis pigmentosa, semi-dominant; protein: novel XRP2 protein similar to human cofactor C [Entrez]	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	Bhattacharya 84; Hardcastle 99; Mears 99; Pomares 09; Schwahn 98; Teague 94; Thiselton 96
PGK1; 311800	Xq21.1	retinitis pigmentosa with myopathy; protein: phosphoglycerate kinase [Entrez]	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 [Entrez]	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 [Entrez]	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
RP24; 300155	Xq26-q27	X-linked retinitis pigmentosa [Entrez]	linkage mapping; single large family; RP2, RP3 and RP15 excluded	Gieser 98
COD2, CORDX2; 300085	Xq27	X-linked progressive cone dystrophy, 2 [Entrez]	linkage mapping	Bergen 97
RP34; 300605	Xq28-qter	X-linked retinitis pigmentosa [Entrez]	linkage mapping; maximum lod score of 2.2 in one family, RP24 excluded	Melamud 06
OPN1LW, RCP, CBP; 303900	Xq28	deuteranopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element; protein: green cone opsin [Entrez]	candidate gene; one to five copies 3' to red pigment gene or more complex organization	Ayyagari 99; Nathans 86; Nathans 92; Neitz 95; Winderickx 92
OPN1MW, GCP, CBD; 303800	Xq28	protanopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element; protein: red cone opsin [Entrez]	candidate gene; Ala180Ser polymorphism with spectral shift	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 [Entrez]	sequencing; multiple large deletions	OMIM 09; Puddu 93; Wallace 99
LHON; 535000	mitochondrion	Leber hereditary optic neuropathy; protein: complex I, III or IV proteins [Entrez]	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 09; 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 [Entrez]	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 [Entrez]	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 [Entrez]	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 [Entrez]	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 [Entrez]	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.

Genes and Mapped Loci Causing Retinal Diseases

Listed by chromosome:

Chromosome 1

Chromosome 2

Chromosome 3

Chromosome 4

Chromosome 5

Chromosome 6

Chromosome 7

Chromosome 8

Chromosome 9

Chromosome 10

Chromosome 11

Chromosome 12

Chromosome 13

Chromosome 14

Chromosome 15

Chromosome 16

Chromosome 17

Chromosome 18

Chromosome 19

Chromosome 20

Chromosome 21

Chromosome 22

X Chromosome

Mitochondrion