GeneAssociated phenotypesInheritanceClinVarHGMD
ATF6AchromatopsiaAR1313
CNGA3Leber congenital amaurosis, AchromatopsiaAR32149
CNGB3Macular degeneration, juvenile, AchromatopsiaAR115124
GNAT2AchromatopsiaAR716
PDE6CCone dystrophyAR3144
PDE6HRetinal cone dystrophy, AchromatopsiaAR22
RGS9BradyopsiaAR22
RGS9BPBradyopsiaAR27
GeneAssociated phenotypesInheritanceClinVarHGMD
AP3B1Hermansky-Pudlak syndromeAR1434
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
C10ORF11Albinism, oculocutaneous, type VIIAR511
DTNBP1Hermansky-Pudlak syndromeAR23
GPR143Nystagmus, congenital, Ocular albinismXL22181
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
LYSTChediak-Higashi syndromeAR5097
MC1RIncreased analgesia from kappa-opioid receptor agonist, Skin/hair/eye pigmentation, variation in, 2AR486
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
MLPHGriscelli syndrome, type 3AR46
MYO5AGriscelli syndromeAR79
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentationAR43310
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
SLC24A5Albinism, oculocutaneous, type VIAR825
SLC38A8Foveal hypoplasia 2AR1118
SLC45A2Skin/hair/eye pigmentation, Oculocutaneous albinismAD/AR16156
TYR*Albinism, oculocutaneousAR77441
TYRP1Albinism, oculocutaneousAR1055
GeneAssociated phenotypesInheritanceClinVarHGMD
AASSHyperlysinemiaAR714
ADAMTS10Weill-Marchesani syndromeAR814
ADAMTS17Weill-Marchesani-like syndromeAR67
ADAMTSL4Ectopia lentis, isolatedAR1127
ASPHFacial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)AR44
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndromeXL4053
CBSHomocystinuria due to cystathionine beta-synthase deficiencyAR88205
COL18A1Knobloch syndromeAR2731
FBN1MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3AD14652679
LTBP2Weill-Marchesani syndrome, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Glaucoma, primary congenitalAR2127
P3H2Myopia, high, with cataract and vitreoretinal degenerationAR77
PORCNFocal dermal hypoplasiaXL16121
SUOXSulfocysteinuriaAR829
VSX2Microphthalmia, isolated 2, Microphthalmia, isolated, with coloboma 3AR913
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA4Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatusAR3081231
CHM#ChoroideremiaXL46284
CYP4V2Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophyAR3194
ELOVL4Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxiaAD/AR1314
PLA2G5Fleck retina, familial benignAR17
PROM1Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Macular dystrophy, retinal,AD/AR2280
PRPH2Choriodal dystrophy, central areolar, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens, Macula dystrophy, patternedAD/AR48176
RDH5Fundus albipunctatusAR1151
RHORetinitis pigmentosa, Night blindness, congenital stationary, Retinitis punctata albescensAD/AR58212
RLBP1Newfoundland rod-cone dystrophy, Fundus albipunctatus, Bothnia retinal dystrophy, Retinitis punctata albescensAR937
RS1RetinoschisisXL44262
VPS13BCohen syndromeAR351203
GeneAssociated phenotypesInheritanceClinVarHGMD
RB1RetinoblastomaAD2661102
GeneAssociated phenotypesInheritanceClinVarHGMD
AHI1Joubert syndromeAR6293
ARL13BJoubert syndromeAR1110
ARMC9Joubert syndrome 30AR1211
B9D1Meckel syndromeAR710
B9D2Meckel syndromeAR84
C21ORF2Retinal dystrophy with or without macular staphyloma (RDMS), Spondylometaphyseal dysplasia, axial (SMDAX)AR1322
C5ORF42Orofaciodigital syndrome, Joubert syndromeAR97103
CC2D2A#COACH syndrome, Joubert syndrome, Meckel syndromeAR7691
CEP104Joubert syndromeAR75
CEP120Short-rib thoracic dysplasia 13 with or without polydactylyAR99
CEP164NephronophthisisAR119
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
CEP41Joubert syndromeAR/Digenic711
CSPP1Jeune asphyxiating thoracic dystrophy, Joubert syndromeAR3227
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)AR2550
KIAA0556Joubert syndrome 26AR22
KIAA0586#Short rib thoracic dysplasia with polydactyly, Joubert syndromeAR2931
KIAA0753Orofaciodigital syndrome XVAR67
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic2444
MKS1Bardet-Biedl syndrome, Meckel syndromeAR5052
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR1976
NPHP3Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndromeAR3875
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
PDE6DJoubert syndrome 22AR31
RPGRIP1L#COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifierAR3949
TCTN1#Joubert syndromeAR66
TCTN2Joubert syndrome, Meckel syndromeAR2015
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR912
TMEM107Joubert syndromeAR103
TMEM138Joubert syndromeAR68
TMEM216Joubert syndrome, Meckel syndromeAR178
TMEM231Joubert syndrome, Meckel syndromeAR1219
TMEM237Joubert syndromeAR711
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR87170
TTC21BShort-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2363
ZNF423Nephronophthisis, Joubert syndromeAD/AR107
GeneAssociated phenotypesInheritanceClinVarHGMD
HESX1Septooptic dysplasia, Pituitary hormone deficiency, combinedAR/AD1526
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunctionAD2373
PAX6Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomalyAD144550
SOX2*Microphthalmia, syndromicAD34104
GeneAssociated phenotypesInheritanceClinVarHGMD
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndromeAR2438
VCANWagner diseaseAD1119
GeneAssociated phenotypesInheritanceClinVarHGMD
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR1620
ADGRV1Febrile seizures, familial, 4, Usher syndrome, type IICAR71236
ARSGUsher syndrome, type IVAR11
CDH23Deafness, Usher syndrome, type 1DAR94358
CEP250Cone rod dystrophy and hearing lossAR5
CEP78Cone rod dystrophy and hearing lossAR79
CIB2Deafness, Usher syndrome type IJAR518
CLRN1Retinitis pigmentosa, Usher sydnrome, type 3AAR2439
DFNB31Deafness, Usher syndrome, type 2DAR1231
ESPN*DeafnessAD/AR1215
HARSCharcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3BAR612
MYO7ADeafness, Deafness, autosomal dominant 11, Usher syndrome, type IAD/AR239515
PCDH15Deafness, Usher syndrome, type 1DAR/Digenic113118
PDZD7#Deafness, autosomal recessiveAR1119
PEX1Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1BAR112134
PEX6Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4BAR58107
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
TUBB4BLeber congenital amaurosis, Hearing lossAD23
USH1CDeafness, Usher syndrome, type ICAR4551
USH1GUsher syndrome, type 1GAR1332
USH2ARetinitis pigmentosa 39, Usher syndrome, type 2AAR4011169
GeneAssociated phenotypesInheritanceClinVarHGMD
ATOH7Persistent hyperplastic primary vitreous, autosomal recessiveAR49
BEST1Vitreoretinochoroidopathy, Microcornea, Rod-cone dystrophy, Posterior staphyloma, Bestrophinopathy, Vitelliform macular dystrophy, Cataract, Retinitis pigmentosa, Macular dystrophy, vitelliform, adult-onset, Retinitis pigmentosa 50, Macular dystrophy, vitelliform 2, Best macular dystrophy, Bestrophinopathy, autosomal recessiveAD/AR62318
CAPN5Vitreoretinopathy, neovascular inflammatoryAD312
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL18A1Knobloch syndromeAR2731
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
CTNNB1Exudative vitreoretinopathy 7, Mental retardation, autosomal dominant 19AD9051
FZD4Retinopathy of prematurity, Exudative vitreoretinopathyAD/Digenic1490
KCNJ13Snowflake vitreoretinal degeneration, Leber congenital amaurosisAD/AR610
KIF11MicrocephalyAD3969
LRP5*Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosisAD/AR/Digenic57196
NDPExudative vitreoretinopathy, Norrie diseaseXL31167
NR2E3Retinitis pigmentosa, Enhanced S-cone syndromeAD/AR1977
P3H2Myopia, high, with cataract and vitreoretinal degenerationAR77
RCBTB1Retinal dystrophy with or without extraocular anomalies (RDEOA), Familial exudative vitreoretinopathyAR69
RS1RetinoschisisXL44262
TSPAN12Exudative vitreoretinopathy, Retinal dysplasia and severe familial exudative vitreoretinopathyAD/AR1651
VCANWagner diseaseAD1119
ZNF408Exudative vitreoretinopathy 6, Retinitis pigmentosa 72AD/AR39
GeneAssociated phenotypesInheritanceClinVarHGMD
AIPL1Retinitis pigmentosa, Cone rod dystrophy, Leber congenital amaurosisAD/AR1079
ALMS1*Alström syndromeAR197302
BBS4Bardet-Biedl syndromeAR2553
CABP4Night blindness, congenital stationaryAR611
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
CNGA3Leber congenital amaurosis, AchromatopsiaAR32149
CRB1Retinitis pigmentosa, Pigmented paravenous chorioretinal atrophy, Leber congenital amaurosisAR54334
CRXCone rod dystrophy, Leber congenital amaurosisAD/AR30106
CWC27Retinitis pigmentosa with or without skeletal anomalies (RPSKA)AR57
DTHD1Leber congenital amaurosis with muscle dystrophyAR1
GUCY2DCone rod dystrophy, Leber congenital amaurosisAD/AR34235
IDH3ALeber congenital amaurosis7
IMPDH1Retinitis pigmentosa, Leber congenital amaurosisAD723
IQCB1Senior-Loken syndromeAR2441
KCNJ13Snowflake vitreoretinal degeneration, Leber congenital amaurosisAD/AR610
LCA5Leber congenital amaurosisAR1049
LRATRetinitis pigmentosa, juvenile, Leber congenital amaurosis, Retinitis punctata albescens, Retinal-dystrophy, early-onset severeAR823
MERTKRetinitis pigmentosaAR2575
MYO7ADeafness, Deafness, autosomal dominant 11, Usher syndrome, type IAD/AR239515
NMNAT1#Leber congenital amaurosisAR2074
RD3Leber congenital amaurosisAR513
RDH12Retinitis pigmentosa, Leber congenital amaurosisAD/AR23102
RDH5Fundus albipunctatusAR1151
RPE65Retinitis pigmentosa, Leber congenital amaurosisAR31197
RPGRIP1Cone rod dystrophy, Leber congenital amaurosisAR44145
SPATA7Leber congenital amaurosis, Retitinitis pigmentosaAR1539
TUBB4BLeber congenital amaurosis, Hearing lossAD23
TULP1Retinitis pigmentosa, Leber congenital amaurosisAR2474
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCB6Blood group, Langereis system, Pseudohyperkalemia, Dyschromatosis universalis hereditaria, Microphthalmia, isolated, with coloboma 7AD/BG920
ADAMTS18Knobloch syndrome 2, Microcornea, myopic chorioretinal atrophy, and telecanthus, Retinal dystrophy, early onset, autosomal recessiveAR414
ADAMTSL4Ectopia lentis, isolatedAR1127
AGK*Sengers syndrome, Cataract 38AR1827
ALDH18A1Spastic paraplegia, Cutis laxaAD/AR2230
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndromeXL4053
BFSP1Cataract 33AR47
BFSP2CataractAD27
CHMP4BCataract 31, multiple typesAD22
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL18A1Knobloch syndromeAR2731
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL4A1Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel diseaseAD58107
CRYAACataractAD/AR1224
CRYABCataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-relatedAD1428
CRYBA1Cataract 10, multiple typesAD913
CRYBA4Cataract 23AD410
CRYBB1CataractAD/AR718
CRYBB2*CataractAD1027
CRYBB3CataractAR37
CRYGCCataractAD1028
CRYGDCataractAD1026
CRYGSCataract, progressive polymorphic corticalAD38
CTDP1Congenital cataracts, facial dysmorphism, and neuropathyAR11
CYP27A1Cerebrotendinous xanthomatosisAR69110
DNMBPCataractAR
EPHA2Cataract 6, multiple typesAD720
ERCC2Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2AR2698
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndromeAR2154
ERCC6*Xeroderma Pigmentosum-Cockayne Syndrome, De Sanctis-Cacchione syndromeAD/AR87135
ERCC8UV-sensitive syndrome, Cockayne syndromeAR3464
EYA1Otofaciocervical syndrome, Branchiootic syndrome, Branchiootorenal syndromeAD56218
FAM126ALeukodystrophy, hypomyelinatingAR812
FOXE3Aphakia, congenital primary, Anterior segment mesenchymal dysgenesis, Cataract 34, Aortic aneurysm, familial thoracicAR/AD929
FTLHyperferritinemia-cataract syndrome, L-ferritin deficiency, Neurodegeneration with brain iron accumulationAD/AR2163
FYCO1CataractAR1020
FZD4Retinopathy of prematurity, Exudative vitreoretinopathyAD/Digenic1490
GALEGalactose epimerase deficiencyAR1226
GALK1Galactokinase deficiencyAR1544
GALTGalactosemiaAR238330
GCNT2Blood group, Ii, Adult i pheno without cataract, Cataract 13 with adult i phenoBG/AR1111
GJA1*Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3AD/AR31107
GJA3CataractAD1443
GJA8CataractAD/AR2061
HSF4CataractAD/AR818
LEMD2Cataract 46, juvenile onset, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM)AR11
LIM2CataractAR24
MAF#Ayme-Gripp syndrome, Cataract 21, multiple typesAD2122
MIPCataract 15, multiple typesAD1127
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
NDPExudative vitreoretinopathy, Norrie diseaseXL31167
NF2Schwannomatosis, NeurofibromatosisAD66433
NHSNance-Horan syndrome, CataractXL3652
OCRLLowe syndrome, Dent diseaseXL47264
OPA3Optic atrophy, 3-methylglutaconic aciduriaAD/AR1315
P3H2Myopia, high, with cataract and vitreoretinal degenerationAR77
PAX6Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomalyAD144550
PITX3Cataract, Anterior segment mesenchymal dysgenesisAD511
PXDNAnterior segment dysgenesis 7AR714
RAB18Warburg micro syndrome 3AR55
RAB3GAP1Warburg micro syndromeAR2966
RAB3GAP2Warburg micro syndrome, Martsolf syndromeAR1115
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
SIL1Marinesco-Sjogren syndromeAR1449
SIPA1L3Cataract 45AR24
SLC16A12Cataract 47AD318
SLC33A1*Congenital cataracts, hearing loss, and neurodegeneration, Spastic paraplegia 42, autosomal dominantAD/AR67
TBC1D20Warburg micro syndrome 4AR66
TDRD7CataractAR55
TFAP2ABranchiooculofacial sydromeAD2342
TMEM70Mitochondrial complex V (ATP synthase) deficiencyAR1218
VIMCataract 30, multiple typesAD23
VSX2Microphthalmia, isolated 2, Microphthalmia, isolated, with coloboma 3AR913
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
WRN*Werner syndromeAR64107
XYLT2Primrose syndromeAR210
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA4Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatusAR3081231
ADAM9Cone rod dystrophyAR610
ADAMTS18Knobloch syndrome 2, Microcornea, myopic chorioretinal atrophy, and telecanthus, Retinal dystrophy, early onset, autosomal recessiveAR414
AIPL1Retinitis pigmentosa, Cone rod dystrophy, Leber congenital amaurosisAD/AR1079
ARHGEF18Retinitis pigmentosa 78AR56
BEST1Vitreoretinochoroidopathy, Microcornea, Rod-cone dystrophy, Posterior staphyloma, Bestrophinopathy, Vitelliform macular dystrophy, Cataract, Retinitis pigmentosa, Macular dystrophy, vitelliform, adult-onset, Retinitis pigmentosa 50, Macular dystrophy, vitelliform 2, Best macular dystrophy, Bestrophinopathy, autosomal recessiveAD/AR62318
C21ORF2Retinal dystrophy with or without macular staphyloma (RDMS), Spondylometaphyseal dysplasia, axial (SMDAX)AR1322
C8ORF37Retinitis pigmentosa, Cone rod dystrophyAR817
CABP4Night blindness, congenital stationaryAR611
CACNA1FAland Island eye disease, Cone rod dystrophy, Night blindness, congenital stationaryXL39182
CACNA2D4Retinal cone dystrophyAR39
CDHR1Retinitis pigmentosa, Cone rod dystrophyAR1248
CEP250Cone rod dystrophy and hearing lossAR5
CEP78Cone rod dystrophy and hearing lossAR79
CERKLRetinitis pigmentosaAR2037
CLN3Neuronal ceroid lipofuscinosis, type 3AR10072
CNGA3Leber congenital amaurosis, AchromatopsiaAR32149
CNGB3Macular degeneration, juvenile, AchromatopsiaAR115124
CNNM4Jalili syndromeAR1124
CRB1Retinitis pigmentosa, Pigmented paravenous chorioretinal atrophy, Leber congenital amaurosisAR54334
CRXCone rod dystrophy, Leber congenital amaurosisAD/AR30106
CYP4V2Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophyAR3194
ELOVL4Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxiaAD/AR1314
GNAT2AchromatopsiaAR716
GUCA1ACone dystrophy 3/Cone rod dystrophyAD721
GUCY2DCone rod dystrophy, Leber congenital amaurosisAD/AR34235
KCNV2Retinal cone dystrophyAR1694
MERTKRetinitis pigmentosaAR2575
PDE6CCone dystrophyAR3144
PDE6HRetinal cone dystrophy, AchromatopsiaAR22
PITPNM3Cone-rod dystrophy 5AD15
POC1BCone-rod dystrophy 20AR47
PROM1Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Macular dystrophy, retinal,AD/AR2280
PRPH2Choriodal dystrophy, central areolar, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens, Macula dystrophy, patternedAD/AR48176
RAB28Cone-rod dystrophy 18AR45
RAX2Cone rod dystrophyAD/AR54
RDH5Fundus albipunctatusAR1151
RGS9BradyopsiaAR22
RGS9BPBradyopsiaAR27
RIMS1Cone-rod dystrophy 7AD312
RPGRRetinitis pigmentosa, Cone-rod dystrophy, X-linked, 1, Macular degeneration, X-linked atrophic, Retinitis pigmentosa 3XL79218
RPGRIP1Cone rod dystrophy, Leber congenital amaurosisAR44145
SEMA4ARetinitis pigmentosa, Cone rod dystrophyAR414
TTLL5Cone-rod dystrophy 19AR1312
GeneAssociated phenotypesInheritanceClinVarHGMD
ACO2Optic atrophy, Infantile cerebellar-retinal degenerationAR1615
AFG3L2*Spastic ataxia, Spinocerebellar ataxiaAD/AR2240
ATAD3A*Harel-Yoon syndromeAD/AR417
AUH3-methylglutaconic aciduriaAR1211
C12ORF65Spastic paraplegia, Combined oxidative phosphorylation deficiencyAR1011
C19ORF12Spastic Paraplegia, Neurodegeneration with brain iron accumulationAR1537
CISD2*Wolfram syndrome 2AR24
DNAJC193-methylglutaconic aciduriaAR36
DNM1LEncephalopathy due to defective mitochondrial and peroxisomal fission 1AD1720
FDXRAuditory neuropathy and optic atrophyAR519
MECRDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)AR76
MFN2Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth diseaseAD/AR70223
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MTPAPSpastic ataxiaAR12
NDUFS1Mitochondrial complex I deficiencyAR2228
NR2F1Bosch-Boonstra optic atrophy syndromeAD2334
OPA1Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14AD/AR96390
OPA3Optic atrophy, 3-methylglutaconic aciduriaAD/AR1315
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR89290
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
RTN4IP1Optic atrophy 10 with or without ataxia, mental retardation, and seizuresAR212
SLC25A46Neuropathy, hereditary motor and sensory, type VIBAR1417
SLC52A2Brown-Vialetto-Van Laere syndromeAR2725
SNX10Osteopetrosis, autosomal recessive 8AR313
SPG7Spastic paraplegiaAR69111
TIMM8A*Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementiaXL1121
TMEM126AOptic atrophyAR31
TSFM#Combined oxidative phosphorylation deficiencyAR66
UCHL1Parkinson disease 5, autosomal dominant, Spastic paraplegia 79, autosomal recessiveAD/AR55
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
YME1L1*Optic atrophy 1111
ZNHIT3#PEHO syndrome51