RetNet:
Genes and Mapped Loci Causing Retinal Diseases

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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.

©1996-2010, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas