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 7, 2022)
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 | 18 | 18 |
| Chorioretinal atrophy or degeneration, autosomal dominant | 1 | 1 |
| Cone or cone-rod dystrophy, autosomal dominant | 9 | 5 |
| Cone or cone-rod dystrophy, autosomal recessive | 19 | 18 |
| Cone or cone-rod dystrophy, X-linked | 1 | 0 |
| Congenital stationary night blindness, autosomal dominant | 1 | 1 |
| Congenital stationary night blindness, autosomal recessive | 10 | 10 |
| Congenital stationary night blindness, X-linked | 2 | 2 |
| Leber congenital amaurosis, autosomal dominant | 1 | 1 |
| Leber congenital amaurosis, autosomal recessive | 13 | 13 |
| Macular degeneration, autosomal dominant | 14 | 10 |
| Macular degeneration, autosomal recessive | 4 | 4 |
| Ocular-retinal developmental disease, autosomal dominant | 1 | 1 |
| Optic atrophy, autosomal dominant | 8 | 5 |
| Optic atrophy, autosomal recessive | 4 | 3 |
| Optic atrophy, X-linked | 1 | 0 |
| Retinitis pigmentosa, autosomal dominant | 24 | 23 |
| Retinitis pigmentosa, autosomal recessive | 46 | 44 |
| Retinitis pigmentosa, X-linked | 5 | 2 |
| Syndromic/systemic diseases with retinopathy, autosomal dominant | 9 | 8 |
| Syndromic/systemic diseases with retinopathy, autosomal recessive | 56 | 53 |
| Syndromic/systemic diseases with retinopathy, X-linked | 3 | 2 |
| Usher syndrome, autosomal recessive | 18 | 15 |
| Other retinopathy, autosomal dominant | 15 | 11 |
| Other retinopathy, autosomal recessive | 19 | 17 |
| Other retinopathy, mitochondrial | 7 | 7 |
| Other retinopathy, X-linked | 8 | 7 |
| TOTALS | 317 | 281 |
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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 | ADIPOR1, ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C8orf37, CEP19, CEP290, IFT172, IFT27, INPP5E, KCNJ13, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 |
| Chorioretinal atrophy or degeneration, autosomal dominant | none | PRDM13, RGR, TEAD1 |
| Cone or cone-rod dystrophy, autosomal dominant | (- - -), CORD4, CORD17, RCD1 | AIPL1, CRX, GUCA1A, GUCY2D, PITPNM3, PROM1, PRPH2, RIMS1, SEMA4A, UNC119 |
| Cone or cone-rod dystrophy, autosomal recessive | CORD8 | ABCA4, ADAM9, ATF6, C21orf2, C8orf37, CACNA2D4, CDHR1, CEP78, CERKL, CNGA3, CNGB3, CNNM4, DYNC2I2, GNAT2, IFT81, KCNV2, PDE6C, PDE6H, POC1B, RAB28, RAX2, RDH5, RPGRIP1, SLC4A7, TTLL5 |
| 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, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, RDH5, SAG, SLC24A1, TRPM1 |
| Congenital stationary night blindness, X-linked | none | CACNA1F, NYX |
| Deafness alone or syndromic, autosomal dominant | none | ESPN, WFS1 |
| Deafness alone or syndromic, autosomal recessive | none | CDH23, CIB2, ESPN, MYO7A, PCDH15, PDZD7, USH1C, WHRN |
| Leber congenital amaurosis, autosomal dominant | none | CRX, IMPDH1, OTX2 |
| Leber congenital amaurosis, autosomal recessive | none | AIPL1, CABP4, CCT2, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 |
| Macular degeneration, autosomal dominant | BCAMD, MCDR3, MCDR4, MCDR5, MDDC | BEST1, C1QTNF5, CTNNA1, EFEMP1, ELOVL4, FSCN2, GUCA1B, HMCN1, IMPG1, OTX2, PRDM13, PROM1, PRPH2, RP1L1, TIMP3 |
| Macular degeneration, autosomal recessive | none | ABCA4, CFH, DRAM2, IMPG1, MFSD8 |
| Macular degeneration, X-linked | none | RPGR |
| Ocular-retinal developmental disease, autosomal dominant | none | VCAN |
| Optic atrophy, autosomal dominant | OPA4, OPA5, OPA8 | AFG3L2, MFN2, MIEF1, NR2F1, OPA1 |
| Optic atrophy, autosomal recessive | OPA6 | ACO2, NBAS, RTN4IP1, TMEM126A |
| Optic atrophy, X-linked | OPA2 | TIMM8A |
| Retinitis pigmentosa, autosomal dominant | RP63 | ADIPOR1, ARL3, BEST1, CA4, CRX, FSCN2, GUCA1B, HK1, IMPDH1, IMPG1, KIF3B, KLHL7, NR2E3, NRL, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RHO, ROM1, RP1, RP9, RPE65, SAG, SEMA4A, SNRNP200, SPP2, TOPORS |
| Retinitis pigmentosa, autosomal recessive | RP22, RP29 | ABCA4, AGBL5, AHR, ARHGEF18, ARL6, ARL2BP, BBS1, BBS2, BEST1, C8orf37, CERKL, CLCC1, CLRN1, CNGA1, CNGB1, CRB1, CWC27, CYP4V2, DHDDS, DHX38, EMC1, ENSA, EYS, FAM161A, GPR125, HGSNAT, IDH3B, IFT140, IFT172, IMPG2, KIAA1549, KIZ, LRAT, MAK, MERTK, MVK, NEK2, NEUROD1, NR2E3, NRL, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PROS1, RBP3, REEP6, RGR, RHO, RLBP1, RP1, RP1L1, RPE65, SAG, SAMD11, SLC7A14, SPATA7, TRNT1, TTC8, TULP1, USH2A, ZNF408, ZNF513 |
| Retinitis pigmentosa, X-linked | RP6, RP24, RP34 | OFD1, RP2, RPGR |
| Syndromic/systemic diseases with retinopathy, autosomal dominant | CORD1 | ABCC6, AFG3L2, ATXN7, COL11A1, COL2A1, JAG1, KCNJ13, KIF11, MFN2, OPA3, PAX2, TREX1, VCAN |
| Syndromic/systemic diseases with retinopathy, autosomal recessive | FHASD, MRST, WFS2 | ABCC6, ABHD12, ACBD5, ACO2, ADAMTS18, ADIPOR1, AFG3L2, AHI1, ALMS1, CC2D2A, CEP164, CEP290, CLN3, COL9A1, CSPP1, CWC27, ELOVL4, EXOSC2, FLVCR1, GNPTG, HARS, HGSNAT, HMX1, IFT140, IFT81, INPP5E, INVS, IQCB1, LAMA1, LRP5, MKS1, MTTP, NPHP1, NPHP3, NPHP4, OPA3, PANK2, PCYT1A, PEX1, PEX2, PEX7, PHYH, PLK4, PNPLA6, POC5, POC1B, PPT1, PRPS1, RDH11, RIMS2, RPGRIP1L, SDCCAG8, SLC25A46, TMEM216, TMEM237, TRNT1, TTPA, TUB, TUBGCP4, TUBGCP6, WDPCP, WDR19, WFS1, ZNF423 |
| Syndromic/systemic diseases with retinopathy, X-linked | (- - -) | OFD1, TIMM8A |
| Usher syndrome, autosomal recessive | USH1E, USH1H, USH1K | ABHD12, ADGRV1, ARSG, CDH23, CEP250, CEP78, CIB2, CLRN1, ESPN, HARS, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN |
| Other retinopathy, autosomal dominant | CACD, CODA1, EVR3, MCDR4 | BEST1, CAPN5, CRB1, ELOVL1, FZD4, ITM2B, KIF3B, LRP5, MAPKAPK3, MIR204, OPN1SW, RB1, RCBTB1, RGR, TSPAN12, ZNF408 |
| Other retinopathy, autosomal recessive | RNANC, VRD1 | ASRGL1, BEST1, C12orf65, CDH3, CNGA3, CNGB3, CNNM4, CYP4V2, DYNC2H1, LRP5, MFRP, MVK, NBAS, NR2E3, OAT, PLA2G5, PROM1, RBP4, RCBTB1, 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.
©1996-2022, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas