ABCA4 Most common cause of inherited macular degeneration; >1,200 pathogenic variants known | ATP-binding cassette sub-family A member 4 | 1p22.1 | AR | |
ABCC6 Encodes a transporter involved in ectopic calcification prevention | ATP-binding cassette sub-family C member 6 | 16p13.11 | AR | |
ADGRV1 Largest known human gene; causes Usher type 2C | Adhesion G protein-coupled receptor V1 (VLGR1) | 5q14.3 | AR | |
AHI1 | Abelson helper integration site 1 | 6q23.3 | AR | |
AIPL1 LCA4 subtype; chaperone for PDE6 | Aryl hydrocarbon receptor interacting protein-like 1 | 17p13.1 | AR | |
ALMS1 Centrosomal/basal body protein; sole known cause of Alström syndrome | Alström syndrome protein 1 | 2p13.1 | AR | |
ATF6 ER stress sensor; rare cause of achromatopsia (~1–2% of cases) | Activating transcription factor 6 | 1q23.3 | AR | |
BBS1 Most common BBS gene (~25% of cases); p.Met390Arg founder variant | Bardet-Biedl syndrome 1 protein | 11q13.2 | AR | |
BBS10 Second most common BBS gene (~20% of cases) | Bardet-Biedl syndrome 10 protein | 12q21.2 | AR | |
BBS12 | Bardet-Biedl syndrome 12 protein | 4q27 | AR | |
BBS2 | Bardet-Biedl syndrome 2 protein | 16q13 | AR | |
BEST1 Chloride channel in RPE; >200 pathogenic variants; also causes BVMD, ARB, and AVMD | Bestrophin-1 | 11q12.3 | ADAR | |
C1QTNF5 Causes late-onset retinal degeneration (L-ORD) and dominant drusen | Complement C1q tumor necrosis factor-related protein 5 | 11q23.3 | AD | |
CACNA1F Causes incomplete X-linked CSNB; allelic with cone dystrophy | Calcium voltage-gated channel subunit alpha1 F | Xp11.23 | XL | |
CACNA1S | Calcium voltage-gated channel subunit alpha1 S | 1q32.1 | AR | |
CC2D2A | Coiled-coil and C2 domain-containing protein 2A | 4p15.32 | AR | |
CEP290 Most common LCA gene in some populations (LCA10); intronic c.2991+1655A>G variant targetable by antisense oligonucleotides | Centrosomal protein 290 kDa | 12q21.32 | AR | |
CHM Sole known cause of choroideremia; essential for Rab GTPase prenylation | Rab escort protein-1 (REP-1) | Xq21.2 | XL | |
CISD2 Causes Wolfram syndrome type 2 | CDGSH iron-sulfur domain-containing protein 2 | 4q24 | AR | |
CLRN1 Causes Usher type 3A | Clarin-1 | 3q25.1 | AR | |
CNGA3 ~25% of achromatopsia cases; gene therapy in Phase 3 trials | Cyclic nucleotide-gated channel alpha-3 | 2q11.2 | AR | |
CNGB1 | Cyclic nucleotide-gated channel beta-1 | 16q13 | AR | |
CNGB3 ~50% of achromatopsia cases; most common cause; gene therapy in clinical trials | Cyclic nucleotide-gated channel beta-3 | 8q21.3 | AR | |
COL11A1 Type 2 Stickler; beaded vitreous pattern | Collagen type XI alpha-1 chain | 1p21.1 | AD | |
COL11A2 Type 3 Stickler; no ocular involvement | Collagen type XI alpha-2 chain | 6p21.32 | AD | |
COL18A1 Sole known cause of Knobloch syndrome | Collagen type XVIII alpha-1 chain (endostatin precursor) | 21q22.3 | AR | |
COL2A1 Most common cause of Stickler syndrome (Type 1); membranous vitreous | Collagen type II alpha-1 chain | 12q13.11 | AD | |
COL9A1 Autosomal recessive Stickler syndrome | Collagen type IX alpha-1 chain | 6q13 | AR | |
CPS1 Serine/glycine metabolism pathway variant associated with MacTel risk | Carbamoyl-phosphate synthase 1 | 2q34 | Complex | |
CRX Master transcription factor for photoreceptor development | Cone-rod homeobox transcription factor | 19q13.32 | AD | |
CYP4V2 Sole known cause of BCD; higher prevalence in East Asian populations | Cytochrome P450 family 4 subfamily V member 2 | 4q35.2 | AR | |
EFEMP1 Arg345Trp founder mutation; model for AMD drusen research | EGF-containing fibulin-like extracellular matrix protein 1 | 2p16.1 | AD | |
ELOVL4 Causes autosomal dominant Stargardt disease (STGD3) | Elongation of very long chain fatty acids protein 4 | 6q14.1 | AD | |
FZD4 Most common AD cause of FEVR; Wnt signaling receptor | Frizzled-4 receptor | 11q14.2 | AD | |
GNAT2 Cone-specific transducin alpha subunit | Guanine nucleotide-binding protein G(t) subunit alpha-2 | 1p13.3 | AR | |
GRK1 | G protein-coupled receptor kinase 1 (rhodopsin kinase) | 13q34 | AR | |
GRM6 Causes autosomal recessive complete CSNB | Metabotropic glutamate receptor 6 | 5q35.3 | AR | |
GUCY2D Most common LCA gene in some European populations (LCA1); also causes dominant CRD | Retinal guanylate cyclase 2D | 17p13.1 | ARAD | |
IKBKG ~80% of cases have exon 4–10 deletion; lethal in hemizygous males | Inhibitor of nuclear factor kappa-B kinase subunit gamma (NEMO) | Xq28 | XLD | |
IMPG1 | Interphotoreceptor matrix proteoglycan 1 | 6q14.2 | AD | |
IMPG2 | Interphotoreceptor matrix proteoglycan 2 | 3q12.3 | AD | |
INPP5E | Inositol polyphosphate-5-phosphatase E | 9q34.3 | AR | |
LRP5 Also causes osteoporosis-pseudoglioma syndrome when biallelic | Low-density lipoprotein receptor-related protein 5 | 11q13.2 | ADAR | |
MKKS Also causes McKusick-Kaufman syndrome | McKusick-Kaufman syndrome protein | 20p12.2 | AR | |
MT-ND1 m.3460G>A variant; ~14% of LHON cases; best prognosis for spontaneous recovery | Mitochondrially encoded NADH dehydrogenase subunit 1 | mtDNA | Mitochondrial | |
MT-ND4 m.11778G>A variant; ~70% of LHON cases; target of lenadogene nolparvovec (Lumevoq) | Mitochondrially encoded NADH dehydrogenase subunit 4 | mtDNA | Mitochondrial | |
MT-ND6 m.14484T>C variant; ~13% of LHON cases | Mitochondrially encoded NADH dehydrogenase subunit 6 | mtDNA | Mitochondrial | |
MYO7A Most common Usher type 1 gene; also causes non-syndromic deafness (DFNB2) | Myosin VIIA | 11q13.5 | AR | |
NDP Sole cause of Norrie disease; allelic with X-linked FEVR | Norrin (Norrie disease protein) | Xp11.3 | XL | |
NMNAT1 LCA9 subtype; nuclear NAD+ biosynthesis enzyme | Nicotinamide nucleotide adenylyltransferase 1 | 1p36.22 | AR | |
NPHP1 Most common nephronophthisis gene overall | Nephrocystin-1 | 2q13 | AR | |
NPHP4 | Nephrocystin-4 (nephroretinin) | 1p36.31 | AR | |
NPHP5 Most common cause of SLS with retinal dystrophy | Nephrocystin-5 (IQCB1) | 3q21.1 | AR | |
NPHP6 Allelic with CEP290/LCA10 | Nephrocystin-6 (CEP290) | 12q21.32 | AR | |
NR2E3 Sole known cause of ESCS; also causes Goldmann-Favre syndrome | Nuclear receptor subfamily 2 group E member 3 | 15q23 | AR | |
NYX Causes complete X-linked CSNB | Nyctalopin | Xp11.4 | XL | |
OAT Sole known cause; ornithine accumulation treatable with arginine-restricted diet | Ornithine aminotransferase | 10q26.13 | AR | |
OPA1 Most common cause of DOA; mitochondrial inner membrane fusion; ~1,000 pathogenic variants | Dynamin-like GTPase OPA1 | 3q29 | AD | |
OPA3 Rare cause; also causes Costeff syndrome (3-methylglutaconic aciduria type III) when biallelic | Optic atrophy protein 3 | 19q13.32 | AD | |
PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha prime | 10q23.33 | AR | |
PDE6H | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit gamma | 12p13.33 | AR | |
PHGDH Serine biosynthesis enzyme; reduced serine levels implicated in MacTel pathogenesis | Phosphoglycerate dehydrogenase | 1p12 | Complex | |
PRDM13 Non-coding duplications near PRDM13 (MCDR1 locus) are the most common cause | PR domain zinc finger protein 13 | 6q16.1 | AD | |
PROM1 Causes STGD4 and cone-rod dystrophy; outer segment disc morphogenesis | Prominin-1 (CD133) | 4p15.32 | ARAD | |
PRPF31 RP11 subtype; variable penetrance due to modifier allele CNOT3 | Pre-mRNA-processing factor 31 | 19q13.42 | AD | |
PRPH2 Highly pleiotropic; >100 pathogenic variants causing RP, macular dystrophies, and pattern dystrophy | Peripherin-2 (RDS) | 6p21.1 | AD | |
RDH11 | Retinol dehydrogenase 11 | 14q24.1 | AR | |
RDH5 Most common cause of fundus albipunctatus; visual cycle enzyme | 11-cis retinol dehydrogenase (RDH5) | 12q13.2 | AR | |
RHO Most common AD-RP gene; Pro23His founder variant in North America; >150 pathogenic variants | Rhodopsin | 3q22.1 | AD | |
RLBP1 Causes Bothnia dystrophy variant; visual cycle protein | Retinaldehyde-binding protein 1 (CRALBP) | 15q26.1 | AR | |
RP1 RP1 subtype; microtubule-associated protein in photoreceptor outer segments | Oxygen-regulated photoreceptor protein 1 | 8q12.1 | ADAR | |
RPE65 LCA2 subtype; first gene therapy target approved by FDA (voretigene neparvovec/Luxturna, 2017) | Retinal pigment epithelium-specific 65 kDa protein | 1p31.2 | AR | |
RPGR Most common X-linked RP gene (~70% of XLRP); ORF15 exon is mutation hotspot | Retinitis pigmentosa GTPase regulator | Xp11.23 | XL | |
RS1 Sole known cause of XLRS; secreted adhesion protein; >200 pathogenic variants; gene therapy in trials | Retinoschisin | Xp22.13 | XL | |
SAG Most common cause of Oguchi disease; rod photoreceptor arrestin | S-antigen (arrestin) | 2q37.1 | AR | |
TEAD1 Causes helicoid peripapillary chorioretinal dystrophy | TEA domain transcription factor 1 | 11p15.3 | AD | |
TIMP3 Sole known cause of SFD; Bruch's membrane component; anti-VEGF responsive | Tissue inhibitor of metalloproteinase-3 | 22q12.3 | AD | |
TMEM67 Associated with liver and kidney involvement | Transmembrane protein 67 (meckelin) | 8q22.1 | AR | |
TRPM1 Causes autosomal recessive complete CSNB; ON-bipolar cell channel | Transient receptor potential cation channel subfamily M member 1 | 15q13.3 | AR | |
TSPAN12 Norrin/Wnt signaling co-receptor | Tetraspanin-12 | 7q31.31 | AD | |
USH2A Most common Usher type 2 gene; also causes non-syndromic RP without hearing loss | Usherin | 1q41 | AR | |
VCAN Extracellular matrix glycoprotein; splice-site mutations; allelic with erosive vitreoretinopathy | Versican | 5q14.3 | AD | |
WFS1 ~90% of Wolfram syndrome cases; ER transmembrane protein regulating calcium homeostasis | Wolframin | 4p16.1 | AR | |
WHRN Causes Usher type 2D | Whirlin | 9q32 | AR | |
ZNF408 Rare cause of FEVR | Zinc finger protein 408 | 11p11.2 | AD | |