Summaries of Genes and Loci Causing Retinal Diseases
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[ A. Genes and Loci | B. Diseases | C. Complex Diseases | D. Graph ]
Tables A and B list different numbers of genes for each disease because they serve different purposes. The purpose of Table A is to provide a simple count of genes, assigning only one disease per gene. Table B is a list of all diseases associated with each gene, sometimes assigning several diseases per gene. Common diseases are listed in Table C but not in Tables A and B. Please see Notes for details.
(Last updated October 1, 2009)
A. Number of Genes and Loci by Disease Category (One Disease per Gene/Locus) | ||
|---|---|---|
| Disease Category | Total No. of Genes and Loci | No. of Identified Genes |
| Bardet-Biedl syndrome, autosomal recessive | 12 | 12 |
| Chorioretinal atrophy or degeneration, autosomal dominant | 1 | 1 |
| Cone or cone-rod dystrophy, autosomal dominant | 7 | 5 |
| Cone or cone-rod dystrophy, autosomal recessive | 6 | 5 |
| Cone or cone-rod dystrophy, X-linked | 1 | 0 |
| Congenital stationary night blindness, autosomal dominant | 1 | 1 |
| Congenital stationary night blindness, autosomal recessive | 5 | 5 |
| Congenital stationary night blindness, X-linked | 2 | 2 |
| Leber congenital amaurosis, autosomal recessive | 9 | 8 |
| Macular degeneration, autosomal dominant | 12 | 6 |
| Macular degeneration, autosomal recessive | 2 | 2 |
| Ocular-retinal developmental disease, autosomal dominant | 1 | 1 |
| Optic atrophy, autosomal dominant | 3 | 1 |
| Optic atrophy, autosomal recessive | 2 | 1 |
| Optic atrophy, X-linked | 1 | 0 |
| Retinitis pigmentosa, autosomal dominant | 18 | 17 |
| Retinitis pigmentosa, autosomal recessive | 20 | 16 |
| Retinitis pigmentosa, X-linked | 6 | 2 |
| Syndromic/systemic diseases with retinopathy, autosomal dominant | 8 | 6 |
| Syndromic/systemic diseases with retinopathy, autosomal recessive | 29 | 23 |
| Syndromic/systemic diseases with retinopathy, X-linked | 2 | 1 |
| Usher syndrome, autosomal recessive | 11 | 9 |
| Other retinopathy, autosomal dominant | 9 | 4 |
| Other retinopathy, autosomal recessive | 14 | 12 |
| Other retinopathy, mitochondrial | 7 | 7 |
| Other retinopathy, X-linked | 8 | 7 |
| TOTALS | 197 | 154 |
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B. Gene and Locus Symbols by Disease Category (One or More Diseases per Gene/Locus) | ||
|---|---|---|
| Disease Category | Mapped Loci (not Identified) | Mapped and Identified Genes |
| Bardet-Biedl syndrome, autosomal recessive | none | ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, INPP5E, MKKS, TRIM32, TTC8 |
| Chorioretinal atrophy or degeneration, autosomal dominant | MCDR1 | RGR, TEAD1 |
| Cone or cone-rod dystrophy, autosomal dominant | CORD4, RCD1 | AIPL1, CRX, GUCA1A, GUCY2D, PITPNM3, PROM1, PRPH2, RIMS1, SEMA4A, UNC119 |
| Cone or cone-rod dystrophy, autosomal recessive | CORD8 | ABCA4, ADAM9, CACNA2D4, CERKL, CNGB3, KCNV2, PDE6C, RAX2, RDH5, RPGRIP1 |
| Cone or cone-rod dystrophy, X-linked | COD2 | CACNA1F, RPGR |
| Congenital stationary night blindness, autosomal dominant | none | GNAT1, PDE6B, RHO |
| Congenital stationary night blindness, autosomal recessive | none | CABP4, GRK1, GRM6, RDH5, SAG |
| Congenital stationary night blindness, X-linked | none | CACNA1F, NYX |
| Deafness alone or syndromic, autosomal dominant | none | WFS1 |
| Deafness alone or syndromic, autosomal recessive | none | CDH23, DFNB31, MYO7A, PCDH15, PDZD7, USH1C |
| Leber congenital amaurosis, autosomal dominant | none | CRX, IMPDH1 |
| Leber congenital amaurosis, autosomal recessive | LCA9 | AIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 |
| Macular degeneration, autosomal dominant | BCMAD, BSMD, MCDR1, MCDR3, MCDR4, MCDR5, MDDC | BEST1, C1QTNF5, EFEMP1, ELOVL4, FSCN2, GUCA1B, HMCN1, PROM1, PRPH2, TIMP3 |
| Macular degeneration, autosomal recessive | none | ABCA4, CFH |
| Macular degeneration, X-linked | none | RPGR |
| Ocular-retinal developmental disease, autosomal dominant | none | VCAN |
| Optic atrophy, autosomal dominant | OPA4, OPA5 | OPA1 |
| Optic atrophy, autosomal recessive | OPA6 | TMEM126A |
| Optic atrophy, X-linked | OPA2 | TIMM8A |
| Retinitis pigmentosa, autosomal dominant | RP33 | CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF8, PRPF31, PRPH2, RDH12, RHO, ROM1, RP1, RP9, SEMA4A, SNRNP200, TOPORS |
| Retinitis pigmentosa, autosomal recessive | RP22, RP28, RP29, RP32 | ABCA4, CERKL, CNGA1, CNGB1, CRB1, EYS, IDH3B, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, RBP3, RGR, RHO, RLBP1, RP1, RPE65, SAG, SPATA7, TULP1, USH2A |
| Retinitis pigmentosa, X-linked | RP6, RP23, RP24, RP34 | RP2, RPGR |
| Syndromic/systemic diseases with retinopathy, autosomal dominant | CORD1, CRV | ABCC6, ATXN7, COL11A1, COL2A1, JAG1, KCNJ13, PAX2, VCAN |
| Syndromic/systemic diseases with retinopathy, autosomal recessive | AXPC1, CORS2, FHASD, LOC619531, MRST, WFS2 | ABCC6, AHI1, ALMS1, CC2D2A, CEP290, CLN3, COL9A1, INPP5E, INVS, IQCB1, LRP5, MTP, NPHP1, NPHP3, NPHP4, OPA3, PANK2, PEX1, PEX7, PHYH, PXMP3, RPGRIP1L, TTPA, WFS1 |
| Syndromic/systemic diseases with retinopathy, X-linked | (- - -) | TIMM8A |
| Usher syndrome, autosomal recessive | USH1E, USH2B | CDH23, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A |
| Other retinopathy, autosomal dominant | CACD, CODA1, EVR3, MCDR4, VRNI | BEST1, CRB1, FZD4, LRP5, OPN1SW, RB1 |
| Other retinopathy, autosomal recessive | ACHM1, RNANC | BEST1, CDH3, CNGA3, CNGB3, CNNM4, CYP4V2, GNAT2, LRP5, MFRP, NR2E3, OAT, PROM1, RBP4, RGS9, RGS9BP, RLBP1 |
| Other retinopathy, mitochondrial | none | KSS, LHON, MT-ATP6, MT-TH, MT-TL1, MT-TP, MT-TS2 |
| Other retinopathy, X-linked | PRD | CACNA1F, CHM, DMD, NDP, OPN1LW, OPN1MW, PGK1, RS1 |
C. Genes Associated with Complex Forms of Retinal Disease | ||
|---|---|---|
| Disease Category | Mapped and Named Loci | Symbols of Associated Genes |
| Age-related macular degeneration (AMD) | ---- | ABCA4, ARMS2, C2, C3, CFB, CFH, ERCC6, FBLN5, HMCN1, HTRA1, RAX2, TLR3, TLR4 |
| Retinopathy of prematurity (ROP) | ---- | NDP |
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Supported by The Foundation Fighting Blindness, The George Gund Foundation, and the Hermann Eye Fund.
©1996-2009, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas