Un estudio genético oftalmológico diseñado y avalado por genetistas clínicos con más de 10 años de experiencia.
Basado en un panel de secuenciación masiva (Next Generation Sequencing – NGS) que analiza las regiones codificantes de 515 genes asociados con enfermedades oftalmológicas
Ver listade genesCreemos que la colaboración con los profesionales sanitarios es fundamental para diseñar herramientas genómicas que aporten soluciones a la práctica clínica, por eso escuchamos y nos adaptamos a sus requerimientos.
En un 64-74% de pacientes con una enfermedad retiniana se puede identificar la mutación causante de dicha enfermedad.
Además la buena accesibilidad de las estructuras anatómicas y la barrera hemato-retiniana favorece el
uso de terapias avanzadas, que ya son una realidad para muchos pacientes.
El estudio genético en las principales patologías hereditarias de retina supone una mejora en la práctica clínica que repercute positivamente en los pacientes
| Gene | Associated Phenotype description | OMIM disease ID |
|---|---|---|
| ABCA4 | Cone-rod dystrophy 3 | 604116 |
| ABCA4 | Fundus flavimaculatus, | 248200 |
| ABCA4 | Retinal dystrophy, early-onset severe, | 248200 |
| ABCA4 | Retinitis pigmentosa 19 | 601718 |
| ABCA4 | Stargardt disease 1 | 248200 |
| ABCA4 | {Macular degeneration, age-related, 2}, | 153800 |
| ABCC6 | Arterial calcification, generalized, of infancy, 2 | 614473 |
| ABCC6 | Pseudoxanthoma elasticum, | 264800 |
| ABCC6 | Pseudoxanthoma elasticum, forme fruste, | 177850 |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, | 612674 |
| ACBD5 | No OMIM phenotype | 612674 |
| ACBD5 | Thrombocytopaenia (Punzo -2010 J Thromb Haemost 8,2085) | 612674 |
| ACBD5 | ?Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236) | 612674 |
| ADAM9 | Cone-rod dystrophy 9 | 612775 |
| ADAMTS18 | Microcornea, myopic chorioretinal atrophy, and telecanthus, | 615458 |
| ADIPOR1 | No OMIM phenotype | 615458 |
| ADIPOR1 | syndromic retinitis pigmentosa (Xy -2016 Hum Mutat 37(3):246-249 | 615458 |
| AGBL1 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 |
| AGBL5 | Retinitis pigmentosa 75, | 617023 |
| AGK | Cataract 38 autosomal recessive, | 614691 |
| AGK | Sengers syndrome, | 212350 |
| AHI1 | Joubert syndrome-3, | 608629 |
| AIPL1 | Cone-rod dystrophy, | 604393 |
| AIPL1 | Leber congenital amaurosis 4 | 604393 |
| AIPL1 | Retinitis pigmentosa, juvenile, | 604393 |
| ALMS1 | Alstrom syndrome, | 203800 |
| AP3B1 | Hermansky-Pudlak syndrome 2 | 608233 |
| APOPT1 | Mitochondrial complex IV deficiency, | 220110 |
| ARL13B | Joubert syndrome 8 | 612291 |
| ARL2BP | Retinitis pigmentosa with or without situs inversus, | 615434 |
| ARL3 | No OMIM phenotype | 615434 |
| ARL3 | ?Retinitis pigmentosa (Strom -2016 PLoS One 11) | 615434 |
| ARL6 | Bardet-Biedl syndrome 3 | 600151 |
| ARL6 | ?Retinitis pigmentosa 55 | 613575 |
| ARL6 | {Bardet-Biedl syndrome 1 modifier of}, | 209900 |
| ASPH | Traboulsi syndrome, | 601552 |
| ATF6 | Achromatopsia 7 | 616517 |
| B3GALTL | Peters-plus syndrome, | 261540 |
| BBIP1 | ?Bardet-Biedl syndrome 18 | 615995 |
| BBS1 | Bardet-Biedl syndrome 1 | 209900 |
| BBS10 | Bardet-Biedl syndrome 10 | 615987 |
| BBS12 | Bardet-Biedl syndrome 12 | 615989 |
| BBS2 | Bardet-Biedl syndrome 2 | 615981 |
| BBS2 | Retinitis pigmentosa 74 | 616562 |
| BBS4 | Bardet-Biedl syndrome 4 | 615982 |
| BBS5 | Bardet-Biedl syndrome 5 | 615983 |
| BBS7 | Bardet-Biedl syndrome 7 | 615984 |
| BBS9 | Bardet-Biedl syndrome 9 | 615986 |
| BCOR | Microphthalmia, syndromic 2 | 300166 |
| BEST1 | Bestrophinopathy, autosomal recessive, | 611809 |
| BEST1 | Macular dystrophy, vitelliform, 2 | 153700 |
| BEST1 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, | 193220 |
| BEST1 | Retinitis pigmentosa, concentric, | 613194 |
| BEST1 | Retinitis pigmentosa-50, | 613194 |
| BEST1 | Vitreoretinochoroidopathy, | 193220 |
| BFSP1 | Cataract 33 | 611391 |
| BFSP2 | Cataract 12 multiple types, | 611597 |
| BLOC1S3 | Hermansky-Pudlak syndrome 8 | 614077 |
| BLOC1S6 | Hermansky-pudlak syndrome 9 | 614171 |
| BMP4 | Microphthalmia, syndromic 6 | 607932 |
| BMP4 | Orofacial cleft 11 | 600625 |
| C10orf11 | Albinism, oculocutaneous, type VII, | 615179 |
| C12orf65 | Combined oxidative phosphorylation deficiency 7 | 613559 |
| C12orf65 | Spastic paraplegia 55 autosomal recessive, | 615035 |
| C19orf12 | Neurodegeneration with brain iron accumulation 4 | 614298 |
| C19orf12 | ?Spastic paraplegia 43 autosomal recessive, | 615043 |
| C1QTNF5 | Retinal degeneration, late-onset, autosomal dominant, | 605670 |
| C21orf2 | No OMIM disease | 605670 |
| C21orf2 | Retinal dystrophy,early-onset with macular staphyloma (Khan -2015 Br J Ophtalmol 99,1725) | 605670 |
| C21orf2 | Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236) | 605670 |
| C21orf2 | Jeune syndrome (Wheway -2015 Nat Cell Biol 17,1074) | 605670 |
| C2orf71 | Retinitis pigmentosa 54 | 613428 |
| C5orf42 | Joubert syndrome 17 | 614615 |
| C5orf42 | Orofaciodigital syndrome VI, | 277170 |
| C8orf37 | Cone-rod dystrophy 16 | 614500 |
| C8orf37 | Retinitis pigmentosa 64 | 614500 |
| CA4 | Retinitis pigmentosa 17 | 600852 |
| CABP4 | Cone-rod synaptic disorder, congenital nonprogressive, | 610427 |
| CACNA1F | Aland Island eye disease, | 300600 |
| CACNA1F | Cone-rod dystrophy, X-linked, 3 | 300476 |
| CACNA1F | Night blindness, congenital stationary (incomplete), 2A, X-linked, | 300071 |
| CACNA2D4 | Retinal cone dystrophy 4 | 610478 |
| CAPN5 | Vitreoretinopathy, neovascular inflammatory, | 193235 |
| CC2D2A | COACH syndrome, | 216360 |
| CC2D2A | Joubert syndrome 9 | 612285 |
| CC2D2A | Meckel syndrome 6 | 612284 |
| CCDC41 | Nephronophthisis 18 | 615862 |
| CDH23 | Deafness, autosomal recessive 12 | 601386 |
| CDH23 | Usher syndrome, type 1D, | 601067 |
| CDH23 | Usher syndrome, type 1D/F digenic, | 601067 |
| CDH3 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy, | 225280 |
| CDH3 | Hypotrichosis, congenital, with juvenile macular dystrophy, | 601553 |
| CDHR1 | Cone-rod dystrophy 15 | 613660 |
| CDHR1 | Retinitis pigmentosa 65 | 613660 |
| CEP164 | Nephronophthisis 15 | 614845 |
| CEP250 | No OMIM phenotype | 614845 |
| CEP250 | Usher syndrome,atypical (Khateb -2014 J Med Genet 51,460) | 614845 |
| CEP250 | ?Miscarriage, recurrent (Filges -2014 Mol Hum Reprod epub,epub) | 614845 |
| CEP290 | Joubert syndrome 5 | 610188 |
| CEP290 | Leber congenital amaurosis 10 | 611755 |
| CEP290 | Meckel syndrome 4 | 611134 |
| CEP290 | Senior-Loken syndrome 6 | 610189 |
| CEP290 | ?Bardet-Biedl syndrome 14 | 615991 |
| CEP41 | Joubert syndrome 15 | 614464 |
| CEP78 | No OMIM phenotype | 614464 |
| CEP78 | Usher syndrome (Fu et al, -2016 J Med Genet) | 614464 |
| CERKL | Retinitis pigmentosa 26 | 608380 |
| CFH | Basal laminar drusen, | 126700 |
| CFH | Complement factor H deficiency, | 609814 |
| CFH | {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, | 235400 |
| CFH | {Macular degeneration, age-related, 4}, | 610698 |
| CHM | Choroideremia, | 303100 |
| CHMP4B | Cataract 31 multiple types, | 605387 |
| CHST6 | Macular corneal dystrophy, | 217800 |
| CIB2 | Deafness, autosomal recessive 48 | 609439 |
| CIB2 | Usher syndrome, type IJ, | 614869 |
| CLN3 | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
| CLN5 | Ceroid lipofuscinosis, neuronal, 5 | 256731 |
| CLN6 | Ceroid lipofuscinosis, neuronal, 6 | 601780 |
| CLN6 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, | 204300 |
| CLN8 | Ceroid lipofuscinosis, neuronal, 8 | 600143 |
| CLN8 | Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant, | 610003 |
| CLRN1 | Retinitis pigmentosa 61 | 614180 |
| CLRN1 | Usher syndrome, type 3A, | 276902 |
| CLUAP1 | No OMIM phenotype | 276902 |
| CLUAP1 | Leber congenital amaurosis (Soens et al, -2016 Genet, Med,) | 276902 |
| CNGA1 | Retinitis pigmentosa 49 | 613756 |
| CNGA3 | Achromatopsia-2, | 216900 |
| CNGB1 | Retinitis pigmentosa 45 | 613767 |
| CNGB3 | Achromatopsia-3, | 262300 |
| CNGB3 | Macular degeneration, juvenile, | 248200 |
| CNNM4 | Jalili syndrome, | 217080 |
| COL11A1 | Fibrochondrogenesis 1 | 228520 |
| COL11A1 | Marshall syndrome, | 154780 |
| COL11A1 | Stickler syndrome, type II, | 604841 |
| COL11A1 | {Lumbar disc herniation, susceptibility to}, | 603932 |
| COL11A2 | Deafness, autosomal dominant 13 | 601868 |
| COL11A2 | Deafness, autosomal recessive 53 | 609706 |
| COL11A2 | Fibrochondrogenesis 2 | 614524 |
| COL11A2 | Otospondylomegaepiphyseal dysplasia, | 215150 |
| COL11A2 | Stickler syndrome, type III, | 184840 |
| COL11A2 | Weissenbacher-Zweymuller syndrome, | 277610 |
| COL18A1 | Knobloch syndrome, type 1 | 267750 |
| COL2A1 | Achondrogenesis, type II or hypochondrogenesis, | 200610 |
| COL2A1 | Avascular necrosis of the femoral head, | 608805 |
| COL2A1 | Czech dysplasia, | 609162 |
| COL2A1 | Epiphyseal dysplasia, multiple, with myopia and deafness, | 132450 |
| COL2A1 | Kniest dysplasia, | 156550 |
| COL2A1 | Legg-Calve-Perthes disease, | 150600 |
| COL2A1 | Osteoarthritis with mild chondrodysplasia, | 604864 |
| COL2A1 | Otospondylomegaepiphyseal dysplasia, | 215150 |
| COL2A1 | Platyspondylic skeletal dysplasia, Torrance type, | 151210 |
| COL2A1 | SED congenita, | 183900 |
| COL2A1 | SMED Strudwick type, | 184250 |
| COL2A1 | Spondyloepiphyseal dysplasia, Stanescu type, | 616583 |
| COL2A1 | Spondyloperipheral dysplasia, | 271700 |
| COL2A1 | Stickler sydrome, type I, nonsyndromic ocular, | 609508 |
| COL2A1 | Stickler syndrome, type I, | 108300 |
| COL2A1 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | 108300 |
| COL8A2 | Corneal dystrophy, Fuchs endothelial, 1 | 136800 |
| COL8A2 | Corneal dystrophy, posterior polymorphous 2 | 609140 |
| COL9A1 | Stickler syndrome, type IV, | 614134 |
| COL9A1 | /?Epiphyseal dysplasia, multiple, 6 | 614135 |
| COL9A2 | Epiphyseal dysplasia, multiple, 2 | 600204 |
| COL9A2 | ?Stickler syndrome, type V, | 614284 |
| COL9A2 | {Intervertebral disc disease, susceptibility to}, | 603932 |
| CRB1 | Leber congenital amaurosis 8 | 613835 |
| CRB1 | Pigmented paravenous chorioretinal atrophy, | 172870 |
| CRB1 | Retinitis pigmentosa-12, autosomal recessive, | 600105 |
| CRX | Cone-rod retinal dystrophy-2, | 120970 |
| CRX | Leber congenital amaurosis 7 | 613829 |
| CRYAA | Cataract 9 multiple types, | 604219 |
| CRYAB | Cardiomyopathy, dilated, 1II, | 615184 |
| CRYAB | Cataract 16 multiple types, | 613763 |
| CRYAB | Myopathy, myofibrillar, 2 | 608810 |
| CRYAB | Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, | 613869 |
| CRYBA1 | Cataract 10 multiple types, | 600881 |
| CRYBA2 | ?Cataract 42 | 115900 |
| CRYBA4 | Cataract 23 | 610425 |
| CRYBB1 | Cataract 17 multiple types, | 611544 |
| CRYBB2 | Cataract 3 multiple types, | 601547 |
| CRYBB3 | Cataract 22 autosomal recessive, | 609741 |
| CRYGB | Cataract 39 multiple types, autosomal dominant, | 615188 |
| CRYGC | Cataract 2 multiple types, | 604307 |
| CRYGD | Cataract 4 multiple types, | 115700 |
| CRYGS | Cataract 20 multiple types, | 116100 |
| CSPP1 | Joubert syndrome 21 | 615636 |
| CTDP1 | Congenital cataracts, facial dysmorphism, and neuropathy, | 604168 |
| CTNNA1 | Macular dystrophy,patterned, | 608970 |
| CTNNA1 | Gastric cancer, diffuse (Majewski -2012 J Pathol epub) | 608970 |
| CTSD | Ceroid lipofuscinosis, neuronal, 10 | 610127 |
| CYP1B1 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, | 231300 |
| CYP1B1 | Peters anomaly, | 604229 |
| CYP4V2 | Bietti crystalline corneoretinal dystrophy, | 210370 |
| DCN | Corneal dystrophy, congenital stromal, | 610048 |
| DFNB31 | Deafness, autosomal recessive 31 | 607084 |
| DFNB31 | Usher syndrome, type 2D, | 611383 |
| DHDDS | Retinitis pigmentosa 59 | 613861 |
| DHX38 | No OMIM phenotype | 613861 |
| DHX38 | Retinitis pigmentosa,early-onset with macular coloboma (Ajmal -2014 J Med Genet 51,444) | 613861 |
| DKC1 | Dyskeratosis congenita, X-linked, | 305000 |
| DRAM2 | Cone-rod dystrophy 21 | 616502 |
| DTNBP1 | Hermansky-Pudlak syndrome 7 | 614076 |
| EFEMP1 | Doyne honeycomb degeneration of retina, | 126600 |
| ELOVL4 | Ichthyosis, spastic quadriplegia, and mental retardation, | 614457 |
| ELOVL4 | Stargardt disease 3 | 600110 |
| ELOVL4 | ?Spinocerebellar ataxia 34 | 133190 |
| EPG5 | Vici syndrome, | 242840 |
| EPHA2 | Cataract 6 multiple types, | 116600 |
| EXOSC2 | No OMIM phenotype | 116600 |
| EXOSC2 | Syndromic retinitis pigmentosa (Di Donato -2016 J Med Genet 53,419) | 116600 |
| EYA1 | Anterior segment anomalies with or without cataract, | 113650 |
| EYA1 | Branchiootic syndrome 1 | 602588 |
| EYA1 | Branchiootorenal syndrome 1 with or without cataracts, | 113650 |
| EYA1 | ?Otofaciocervical syndrome, | 166780 |
| EYS | Retinitis pigmentosa 25 | 602772 |
| FA2H | Spastic paraplegia 35 autosomal recessive, | 612319 |
| FAM161A | Retinitis pigmentosa 28 | 606068 |
| FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa, | 609033 |
| FOXC1 | Axenfeld-Rieger syndrome, type 3 | 602482 |
| FOXC1 | Iridogoniodysgenesis, type 1 | 601631 |
| FOXC1 | Iris hypoplasia and glaucoma, | 601631 |
| FOXC1 | Rieger or Axenfeld anomalies, | 602482 |
| FOXE3 | Anterior segment mesenchymal dysgenesis, | 107250 |
| FOXE3 | Aphakia, congenital primary, | 610256 |
| FRMD7 | Nystagmus 1 congenital, X-linked, | 310700 |
| FRMD7 | Nystagmus, infantile periodic alternating, X-linked, | 310700 |
| FTL | Hyperferritinemia-cataract syndrome, | 600886 |
| FTL | L-ferritin deficiency, dominant and recessive, | 615604 |
| FTL | Neurodegeneration with brain iron accumulation 3 | 606159 |
| FYCO1 | Cataract 18 autosomal recessive, | 610019 |
| FZD4 | Exudative vitreoretinopathy 1 | 133780 |
| FZD4 | Retinopathy of prematurity, | 133780 |
| GALK1 | Galactokinase deficiency with cataracts, | 230200 |
| GALT | Galactosemia, | 230400 |
| GCNT2 | Adult i phenotype without cataract, | 110800 |
| GCNT2 | Cataract 13 with adult i phenotype, | 116700 |
| GCNT2 | [Blood group, Ii], | 110800 |
| GDF3 | Klippel-Feil syndrome 3 autosomal dominant, | 613702 |
| GDF3 | Microphthalmia with coloboma 6 | 613703 |
| GDF3 | Microphthalmia, isolated 7 | 613704 |
| GDF6 | Klippel-Feil syndrome 1 autosomal dominant, | 118100 |
| GDF6 | Leber congenital amaurosis 17 | 615360 |
| GDF6 | Microphthalmia with coloboma 6 digenic, | 613703 |
| GDF6 | Microphthalmia, isolated 4 | 613094 |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 613094 |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 613076 |
| GJA1 | Atrioventricular septal defect 3 | 600309 |
| GJA1 | Craniometaphyseal dysplasia, autosomal recessive, | 218400 |
| GJA1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
| GJA1 | Hypoplastic left heart syndrome 1 | 241550 |
| GJA1 | Oculodentodigital dysplasia, | 164200 |
| GJA1 | Oculodentodigital dysplasia, autosomal recessive, | 257850 |
| GJA1 | Palmoplantar keratoderma with congenital alopecia, | 104100 |
| GJA1 | Syndactyly, type III, | 186100 |
| GJA3 | Cataract 14 multiple types, | 601885 |
| GJA8 | Cataract 1 multiple types, | 116200 |
| GNAT1 | Night blindness, congenital stationary, autosomal dominant 3 | 610444 |
| GNAT1 | ?Night blindness, congenital stationary, type 1G, | 616389 |
| GNAT2 | Achromatopsia-4, | 613856 |
| GNB3 | Night blindness, congenital stationary, type 1H, | 617024 |
| GNB3 | {Hypertension, essential, susceptibility to}, | 145500 |
| GNPTG | Mucolipidosis III gamma, | 252605 |
| GPR143 | Nystagmus 6 congenital, X-linked, | 300814 |
| GPR143 | Ocular albinism, type I, Nettleship-Falls type, | 300500 |
| GPR179 | Night blindness, congenital stationary (complete), 1E, autosomal recessive, | 614565 |
| GPR98 | Usher syndrome, type 2C, | 605472 |
| GPR98 | Usher syndrome, type 2C, GPR98/PDZD7 digenic, | 605472 |
| GPR98 | ?Febrile seizures, familial, 4 | 604352 |
| GRK1 | Oguchi disease-2, | 613411 |
| GRM6 | Night blindness, congenital stationary (complete), 1B, autosomal recessive, | 257270 |
| GRN | Aphasia, primary progressive, | 607485 |
| GRN | Ceroid lipofuscinosis, neuronal, 11 | 614706 |
| GRN | Frontotemporal lobar degeneration with ubiquitin-positive inclusions, | 607485 |
| GSN | Amyloidosis, Finnish type, | 105120 |
| GUCA1A | Cone dystrophy-3, | 602093 |
| GUCA1A | Cone-rod dystrophy 14 | 602093 |
| GUCA1B | Retinitis pigmentosa 48 | 613827 |
| GUCY2D | Cone-rod dystrophy 6 | 601777 |
| GUCY2D | Leber congenital amaurosis 1 | 204000 |
| HARS | Charcot-Marie-Tooth disease, axonal, type 2W, | 616625 |
| HARS | Usher syndrome type 3B, | 614504 |
| HCCS | Linear skin defects with multiple congenital anomalies 1 | 309801 |
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C), | 252930 |
| HGSNAT | Retinitis pigmentosa 73 | 616544 |
| HK1 | Hemolytic anemia due to hexokinase deficiency, | 235700 |
| HK1 | Neuropathy, hereditary motor and sensory, Russe type, | 605285 |
| HK1 | Retinitis pigmentosa (Wang -2014 Invest Ophthalmol Vis Sci 55,7159) | 605285 |
| HMX1 | Oculoauricular syndrome, | 612109 |
| HPS1 | Hermansky-Pudlak syndrome 1 | 203300 |
| HPS4 | Hermansky-Pudlak syndrome 4 | 614073 |
| HPS5 | Hermansky-Pudlak syndrome 5 | 614074 |
| HPS6 | Hermansky-Pudlak syndrome 6 | 614075 |
| HSF4 | Cataract 5 multiple types, | 116800 |
| IDH3B | Retinitis pigmentosa 46 | 612572 |
| IFT140 | Short-rib thoracic dysplasia 9 with or without polydactyly, | 266920 |
| IFT172 | Retinitis pigmentosa 71 | 616394 |
| IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly, | 615630 |
| IFT27 | ?Bardet-Biedl syndrome 19 | 615996 |
| IMPDH1 | Leber congenital amaurosis 11 | 613837 |
| IMPDH1 | Retinitis pigmentosa 10 | 180105 |
| IMPG1 | Macular dystrophy, vitelliform, 4 | 616151 |
| IMPG2 | Macular dystrophy, vitelliform, 5 | 616152 |
| IMPG2 | Retinitis pigmentosa 56 | 613581 |
| INPP5E | Joubert syndrome 1 | 213300 |
| INPP5E | Mental retardation, truncal obesity, retinal dystrophy, and micropenis, | 610156 |
| INVS | Nephronophthisis 2 infantile, | 602088 |
| IQCB1 | Senior-Loken syndrome 5 | 609254 |
| JAG1 | Alagille syndrome, | 118450 |
| JAG1 | Tetralogy of Fallot, | 187500 |
| JAG1 | ?Deafness, congenital heart defects, and posterior embryotoxon | 187500 |
| JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, | 613730 |
| KCNJ13 | Leber congenital amaurosis 16 | 614186 |
| KCNJ13 | Snowflake vitreoretinal degeneration, | 193230 |
| KCNV2 | Retinal cone dystrophy 3B, | 610356 |
| KERA | Cornea plana congenita, recessive, | 217300 |
| KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, | 152950 |
| KIF7 | Acrocallosal syndrome, | 200990 |
| KIF7 | Joubert syndrome 12 | 200990 |
| KIF7 | ?Al-Gazali-Bakalinova syndrome, | 607131 |
| KIF7 | ?Hydrolethalus syndrome 2 | 614120 |
| KIZ | Retinitis pigmentosa 69 | 615780 |
| KLHL7 | Cold induced sweating syndrome 3 | 617055 |
| KLHL7 | Retinitis pigmentosa 42 | 612943 |
| KRT12 | Meesmann corneal dystrophy, | 122100 |
| KRT3 | Meesmann corneal dystrophy, | 122100 |
| LAMA1 | Poretti-Boltshauser syndrome, | 615960 |
| LCA5 | Leber congenital amaurosis 5 | 604537 |
| LEMD2 | Cataract 46 juvenile-onset, | 212500 |
| LEPREL1 | Myopia, high, with cataract and vitreoretinal degeneration, | 614292 |
| LIM2 | Cataract 19 multiple types, | 615277 |
| LRAT | Leber congenital amaurosis 14 | 613341 |
| LRAT | Retinal dystrophy, early-onset severe, | 613341 |
| LRAT | Retinitis pigmentosa, juvenile, | 613341 |
| LRIT3 | Night blindness, congenital stationary (complete), 1F, autosomal recessive, | 615058 |
| LRP5 | Exudative vitreoretinopathy 4 | 601813 |
| LRP5 | Hyperostosis, endosteal, | 144750 |
| LRP5 | Osteopetrosis, autosomal dominant 1 | 607634 |
| LRP5 | Osteoporosis-pseudoglioma syndrome, | 259770 |
| LRP5 | Osteosclerosis, | 144750 |
| LRP5 | van Buchem disease, type 2 | 607636 |
| LRP5 | [Bone mineral density variability 1], | 601884 |
| LRP5 | {Osteoporosis}, | 166710 |
| LSS | Cataract 44 | 616509 |
| LYST | Chediak-Higashi syndrome, | 214500 |
| LZTFL1 | Bardet-Biedl syndrome 17 | 615994 |
| MAB21L2 | Microphthalmia, syndromic 14 | 615877 |
| MAF | Ayme-Gripp syndrome, | 601088 |
| MAF | Cataract 21 multiple types, | 610202 |
| MAK | Retinitis pigmentosa 62 | 614181 |
| MAPKAPK3 | No OMIM phenotype | 614181 |
| MAPKAPK3 | Martinique crinkled retinal pigment epitheliopathy (Meunier -2016 Hum Mol Gene 25,916) | 614181 |
| MERTK | Retinitis pigmentosa 38 | 613862 |
| MFN2 | Charcot-Marie-Tooth disease, type 2A2, | 609260 |
| MFN2 | Hereditary motor and sensory neuropathy VIA, | 601152 |
| MFRP | Microphthalmia, isolated 5 | 611040 |
| MFRP | Nanophthalmos 2 | 609549 |
| MFSD8 | Ceroid lipofuscinosis, neuronal, 7 | 610951 |
| MFSD8 | Macular dystrophy with central cone involvement, | 616170 |
| MIP | Cataract 15 multiple types, | 615274 |
| MIP | MIR184 NC NC NC EDICT syndrome, | 614303 |
| MITF | Tietz albinism-deafness syndrome, | 103500 |
| MITF | Waardenburg syndrome, type 2A, | 193510 |
| MITF | Waardenburg syndrome/ocular albinism, digenic, | 103470 |
| MITF | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 614456 |
| MKKS | Bardet-Biedl syndrome 6 | 605231 |
| MKKS | McKusick-Kaufman syndrome, | 236700 |
| MKS1 | Bardet-Biedl syndrome 13 | 615990 |
| MKS1 | Meckel syndrome 1 | 249000 |
| MVK | Hyper-IgD syndrome, | 260920 |
| MVK | Mevalonic aciduria, | 610377 |
| MVK | Porokeratosis 3 multiple types, | 175900 |
| MYO7A | Deafness, autosomal dominant 11 | 601317 |
| MYO7A | Deafness, autosomal recessive 2 | 600060 |
| MYO7A | Usher syndrome, type 1B, | 276900 |
| MYOC | Glaucoma 1A, primary open angle, | 137750 |
| NAA10 | Ogden syndrome, | 300855 |
| NAA10 | ?Microphthalmia, syndromic 1 | 309800 |
| NBAS | Infantile liver failure syndrome 2 | 616483 |
| NBAS | Short stature, optic nerve atrophy, and Pelger-Huet anomaly, | 614800 |
| NDP | Exudative vitreoretinopathy 2 X-linked, | 305390 |
| NDP | Norrie disease, | 310600 |
| NEK2 | ?Retinitis pigmentosa 67 | 615565 |
| NEUROD1 | Maturity-onset diabetes of the young 6 | 606394 |
| NEUROD1 | {Diabetes mellitus, noninsulin-dependent}, | 125853 |
| NEUROD1 | Retinitis pigmentosa, autosomal recessive (Wang -2015 Invest Ophthalmol Vis Sci 56,150) | 125853 |
| NHS | Cataract 40 X-linked, | 302200 |
| NHS | Nance-Horan syndrome, | 302350 |
| NMNAT1 | Leber congenital amaurosis 9 | 608553 |
| NPHP1 | Joubert syndrome 4 | 609583 |
| NPHP1 | Nephronophthisis 1 juvenile, | 256100 |
| NPHP1 | Senior-Loken syndrome-1, | 266900 |
| NPHP3 | Meckel syndrome 7 | 267010 |
| NPHP3 | Nephronophthisis 3 | 604387 |
| NPHP3 | Renal-hepatic-pancreatic dysplasia 1 | 208540 |
| NPHP4 | Nephronophthisis 4 | 606966 |
| NPHP4 | Senior-Loken syndrome 4 | 606996 |
| NR2E3 | Enhanced S-cone syndrome, | 268100 |
| NR2E3 | Retinitis pigmentosa 37 | 611131 |
| NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome, | 615722 |
| NRL | Retinal degeneration, autosomal recessive, clumped pigment type | 615722 |
| NRL | Retinitis pigmentosa 27 | 613750 |
| NYX | Night blindness, congenital stationary (complete), 1A, X-linked, | 310500 |
| OAT | Gyrate atrophy of choroid and retina with or without ornithinemia, | 258870 |
| OCA2 | Albinism, brown oculocutaneous, | 203200 |
| OCA2 | Albinism, oculocutaneous, type II, | 203200 |
| OCA2 | [Skin/hair/eye pigmentation 1 blond/brown hair], | 227220 |
| OCA2 | [Skin/hair/eye pigmentation 1 blue/nonblue eyes], | 227220 |
| OFD1 | Joubert syndrome 10 | 300804 |
| OFD1 | Orofaciodigital syndrome I, | 311200 |
| OFD1 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 |
| OFD1 | ?Retinitis pigmentosa 23 | 300424 |
| OPA1 | Behr syndrome, | 210000 |
| OPA1 | Optic atrophy 1 | 165500 |
| OPA1 | Optic atrophy plus syndrome, | 125250 |
| OPA1 | ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), | 616896 |
| OPA1 | {Glaucoma, normal tension, susceptibility to}, | 606657 |
| OPA3 | 3-methylglutaconic aciduria, type III, | 258501 |
| OPA3 | Optic atrophy 3 with cataract, | 165300 |
| OPN1LW | Blue cone monochromacy, | 303700 |
| OPN1LW | Colorblindness, protan, | 303900 |
| OPN1MW | Blue cone monochromacy, | 303700 |
| OPN1MW | Colorblindness, deutan, | 303800 |
| OTX2 | Microphthalmia, syndromic 5 | 610125 |
| OTX2 | Pituitary hormone deficiency, combined, 6 | 613986 |
| OTX2 | Retinal dystrophy, early-onset, with or without pituitary dysfunction, | 610125 |
| PANK2 | HARP syndrome, | 607236 |
| PANK2 | Neurodegeneration with brain iron accumulation 1 | 234200 |
| PAX2 | Glomerulosclerosis, focal segmental, 7 | 616002 |
| PAX2 | Papillorenal syndrome, | 120330 |
| PAX6 | Aniridia, | 106210 |
| PAX6 | Cataract with late-onset corneal dystrophy, | 106210 |
| PAX6 | Coloboma of optic nerve, | 120430 |
| PAX6 | Coloboma, ocular, | 120200 |
| PAX6 | Foveal hypoplasia 1 | 136520 |
| PAX6 | Keratitis, | 148190 |
| PAX6 | Optic nerve hypoplasia, | 165550 |
| PAX6 | Peters anomaly, | 604229 |
| PAX6 | ?Morning glory disc anomaly, | 120430 |
| PCDH15 | Deafness, autosomal recessive 23 | 609533 |
| PCDH15 | Usher syndrome, type 1D/F digenic, | 601067 |
| PCDH15 | Usher syndrome, type 1F, | 602083 |
| PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy, | 608940 |
| PDE6A | Retinitis pigmentosa 43 | 613810 |
| PDE6B | Night blindness, congenital stationary, autosomal dominant 2 | 163500 |
| PDE6B | Retinitis pigmentosa-40, | 613801 |
| PDE6C | Cone dystrophy 4 | 613093 |
| PDE6D | ?Joubert syndrome 22 | 615665 |
| PDE6G | Retinitis pigmentosa 57 | 613582 |
| PDE6H | Achromatopsia 6 | 610024 |
| PDE6H | Retinal cone dystrophy 3 | 610024 |
| PDZD7 | Usher syndrome, type IIC, GPR98/PDZD7 digenic, | 605472 |
| PDZD7 | {Retinal disease in Usher syndrome type IIA, modifier of}, | 276901 |
| PET100 | Mitochondrial complex IV deficiency, | 220110 |
| PEX1 | Heimler syndrome 1 | 234580 |
| PEX1 | Peroxisome biogenesis disorder 1A (Zellweger), | 214100 |
| PEX1 | Peroxisome biogenesis disorder 1B (NALD/IRD), | 601539 |
| PEX2 | Peroxisome biogenesis disorder 5A (Zellweger), | 614866 |
| PEX2 | Peroxisome biogenesis disorder 5B, | 614867 |
| PEX7 | Peroxisome biogenesis disorder 9B, | 614879 |
| PEX7 | Rhizomelic chondrodysplasia punctata, type 1 | 215100 |
| PGK1 | Phosphoglycerate kinase 1 deficiency, | 300653 |
| PHYH | Refsum disease, | 266500 |
| PIKFYVE | Corneal fleck dystrophy, | 121850 |
| PITX2 | Axenfeld-Rieger syndrome, type 1 | 180500 |
| PITX2 | Iridogoniodysgenesis, type 2 | 137600 |
| PITX2 | Peters anomaly, | 604229 |
| PITX2 | Ring dermoid of cornea, | 180550 |
| PITX3 | Anterior segment mesenchymal dysgenesis, | 107250 |
| PITX3 | Cataract 11 multiple types, | 610623 |
| PITX3 | Cataract 11 syndromic, | 610623 |
| PLA2G5 | [Fleck retina, familial benign], | 228980 |
| PLK4 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | 616171 |
| PNPLA6 | Boucher-Neuhauser syndrome, | 215470 |
| PNPLA6 | Oliver-McFarlane syndrome, | 275400 |
| PNPLA6 | Spastic paraplegia 39 autosomal recessive, | 612020 |
| PNPLA6 | ?Laurence-Moon syndrome, | 245800 |
| POC1B | Cone-rod dystrophy 20 | 615973 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | 613151 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | 613157 |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
| PRCD | Retinitis pigmentosa 36 | 610599 |
| PROM1 | Cone-rod dystrophy 12 | 612657 |
| PROM1 | Macular dystrophy, retinal, 2 | 608051 |
| PROM1 | Retinitis pigmentosa 41 | 612095 |
| PROM1 | Stargardt disease 4 | 603786 |
| PRPF3 | Retinitis pigmentosa 18 | 601414 |
| PRPF31 | Retinitis pigmentosa 11 | 600138 |
| PRPF4 | Retinitis pigmentosa 70 | 615922 |
| PRPF6 | Retinitis pigmentosa 60 | 613983 |
| PRPF8 | Retinitis pigmentosa 13 | 600059 |
| PRPH2 | Choriodal dystrophy, central areolar 2 | 613105 |
| PRPH2 | Leber congenital amaurosis 18 | 608133 |
| PRPH2 | Macular dystrophy, patterned, 1 | 169150 |
| PRPH2 | Macular dystrophy, vitelliform, 3 | 608161 |
| PRPH2 | Retinitis pigmentosa 7 and digenic, | 608133 |
| PRPH2 | Retinitis punctata albescens, | 136880 |
| PRSS56 | Microphthalmia, isolated 6 | 613517 |
| PXDN | Corneal opacification and other ocular anomalies, | 269400 |
| RAB28 | Cone-rod dystrophy 18 | 615374 |
| RARB | Microphthalmia, syndromic 12 | 615524 |
| RAX2 | ?Macular degeneration, age-related, 6 | 613757 |
| RAX2 | Cone-rod dystrophy 11 | 610381 |
| RBP3 | ?Retinitis pigmentosa 66 | 615233 |
| RBP4 | Microphthalmia, isolated, with coloboma 10 | 616428 |
| RBP4 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, | 615147 |
| RCBTB1 | [Beta-glycopyranoside tasting] | 615147 |
| RCBTB1 | {Alcohol dependence, susceptibility to}, | 103780 |
| RD3 | Leber congenital amaurosis 12 | 610612 |
| RDH11 | ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, | 616108 |
| RDH12 | Leber congenital amaurosis 13 | 612712 |
| RDH5 | Fundus albipunctatus, | 136880 |
| RGR | Retinitis pigmentosa 44 | 613769 |
| RGS9 | Bradyopsia, | 608415 |
| RGS9BP | Bradyopsia, | 608415 |
| RHO | Night blindness, congenital stationary, autosomal dominant 1 | 610445 |
| RHO | Retinitis pigmentosa 4 autosomal dominant or recessive, | 613731 |
| RHO | Retinitis punctata albescens, | 136880 |
| RIMS1 | Cone-rod dystrophy 7 | 603649 |
| RLBP1 | Bothnia retinal dystrophy, | 607475 |
| RLBP1 | Fundus albipunctatus, | 136880 |
| RLBP1 | Newfoundland rod-cone dystrophy, | 607476 |
| RLBP1 | Retinitis punctata albescens, | 136880 |
| ROM1 | Retinitis pigmentosa 7 digenic, | 608133 |
| RP1 | Retinitis pigmentosa 1 | 180100 |
| RP1L1 | Occult macular dystrophy, | 613587 |
| RP2 | Retinitis pigmentosa 2 | 312600 |
| RP9 | ?Retinitis pigmentosa 9 | 180104 |
| RPE65 | Leber congenital amaurosis 2 | 204100 |
| RPE65 | Retinitis pigmentosa 20 | 613794 |
| RPGR | Cone-rod dystrophy, X-linked, 1 | 304020 |
| RPGR | Macular degeneration, X-linked atrophic, | 300834 |
| RPGR | Retinitis pigmentosa 3 | 300029 |
| RPGR | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, | 300455 |
| RPGRIP1 | Cone-rod dystrophy 13 | 608194 |
| RPGRIP1 | Leber congenital amaurosis 6 | 613826 |
| RPGRIP1L | COACH syndrome, | 216360 |
| RPGRIP1L | Joubert syndrome 7 | 611560 |
| RPGRIP1L | Meckel syndrome 5 | 611561 |
| RS1 | Retinoschisis, | 312700 |
| RTN4IP1 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures, | 616732 |
| SAG | Oguchi disease-1, | 258100 |
| SAG | Retinitis pigmentosa 47 | 613758 |
| SDCCAG8 | Bardet-Biedl syndrome 16 | 615993 |
| SDCCAG8 | Senior-Loken syndrome 7 | 613615 |
| SEMA4A | Cone-rod dystrophy 10 | 610283 |
| SEMA4A | Retinitis pigmentosa 35 | 610282 |
| SHH | Holoprosencephaly-3, | 142945 |
| SHH | Microphthalmia with coloboma 5 | 611638 |
| SHH | Schizencephaly, | 269160 |
| SHH | Single median maxillary central incisor, | 147250 |
| SIPA1L3 | ?Cataract 45 | 616851 |
| SIX6 | Optic disc anomalies with retinal and/or macular dystrophy, | 212550 |
| SLC16A12 | Cataract, juvenile, with microcornea and glucosuria, | 612018 |
| SLC24A1 | Night blindness, congenital stationary (complete), 1D, autosomal recessive, | 613830 |
| SLC24A5 | Albinism, oculocutaneous, type VI, | 113750 |
| SLC24A5 | [Skin/hair/eye pigmentation 4 fair/dark skin], | 113750 |
| SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB, | 616505 |
| SLC33A1 | Congenital cataracts, hearing loss, and neurodegeneration, | 614482 |
| SLC33A1 | Spastic paraplegia 42 autosomal dominant, | 612539 |
| SLC38A8 | Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, | 612539 |
| SLC38A8 | Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, | 609218 |
| SLC45A2 | Albinism, oculocutaneous, type IV, | 606574 |
| SLC45A2 | [Skin/hair/eye pigmentation 5 black/nonblack hair], | 227240 |
| SLC45A2 | [Skin/hair/eye pigmentation 5 dark/fair skin], | 227240 |
| SLC45A2 | [Skin/hair/eye pigmentation 5 dark/light eyes], | 227240 |
| SLC4A11 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 |
| SLC4A11 | Corneal endothelial dystrophy 2 autosomal recessive, | 217700 |
| SLC4A11 | Corneal endothelial dystrophy and perceptive deafness, | 217400 |
| SLC52A2 | Brown-Vialetto-Van Laere syndrome 2 | 614707 |
| SLC7A14 | Retinitis pigmentosa 68 | 615725 |
| SNRNP200 | Retinitis pigmentosa 33 | 610359 |
| SOX2 | Microphthalmia, syndromic 3 | 206900 |
| SOX2 | Optic nerve hypoplasia and abnormalities of the central nervous system, | 206900 |
| SPATA7 | Leber congenital amaurosis 3 | 604232 |
| SPATA7 | Retinitis pigmentosa, juvenile, autosomal recessive, | 604232 |
| SPP2 | No OMIM phenotype | 604232 |
| SPP2 | Retinitis pigmentosa (Li -2015 Sci Rep 5,14867) | 604232 |
| SPP2 | ?Autism (Neale -2012 Nature 485,242) | 604232 |
| STRA6 | Microphthalmia, isolated, with coloboma 8 | 601186 |
| STRA6 | Microphthalmia, syndromic 9 | 601186 |
| TACSTD2 | Corneal dystrophy, gelatinous drop-like, | 204870 |
| TCTN1 | Joubert syndrome 13 | 614173 |
| TCTN3 | Joubert syndrome 18 | 614815 |
| TCTN3 | Orofaciodigital syndrome IV, | 258860 |
| TDRD7 | Cataract 36 | 613887 |
| TEAD1 | Sveinsson choreoretinal atrophy, | 108985 |
| TENM3 | Microphthalmia, isolated, with coloboma 9 | 615145 |
| TGFBI | Corneal dystrophy, Avellino type, | 607541 |
| TGFBI | Corneal dystrophy, epithelial basement membrane, | 121820 |
| TGFBI | Corneal dystrophy, Groenouw type I, | 121900 |
| TGFBI | Corneal dystrophy, lattice type I, | 122200 |
| TGFBI | Corneal dystrophy, lattice type IIIA, | 608471 |
| TGFBI | Corneal dystrophy, Reis-Bucklers type, | 608470 |
| TGFBI | Corneal dystrophy, Thiel-Behnke type, | 602082 |
| TIMM8A | Jensen syndrome, | 311150 |
| TIMM8A | Mohr-Tranebjaerg syndrome, | 304700 |
| TIMP3 | Sorsby fundus dystrophy, | 136900 |
| TMEM126A | Optic atrophy 7 | 612989 |
| TMEM138 | Joubert syndrome 16 | 614465 |
| TMEM231 | Joubert syndrome 20 | 614970 |
| TMEM231 | Meckel syndrome 11 | 615397 |
| TMEM237 | Joubert syndrome 14 | 614424 |
| TMEM67 | COACH syndrome, | 216360 |
| TMEM67 | Joubert syndrome 6 | 610688 |
| TMEM67 | Meckel syndrome 3 | 607361 |
| TMEM67 | Nephronophthisis 11 | 613550 |
| TMEM67 | {Bardet-Biedl syndrome 14 modifier of}, | 615991 |
| TOPORS | Retinitis pigmentosa 31 | 609923 |
| TPP1 | Ceroid lipofuscinosis, neuronal, 2 | 204500 |
| TPP1 | Spinocerebellar ataxia, autosomal recessive 7 | 609270 |
| TRAF3IP1 | Senior-Loken syndrome 9 | 616629 |
| TREX1 | Aicardi-Goutieres syndrome 1 dominant and recessive, | 225750 |
| TREX1 | Chilblain lupus, | 610448 |
| TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy, | 192315 |
| TREX1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
| TRIM32 | Muscular dystrophy, limb-girdle, type 2H, | 254110 |
| TRIM32 | ?Bardet-Biedl syndrome 11 | 615988 |
| TRNT1 | Retinitis pigmentosa and erythrocytic microcytosis, | 616959 |
| TRNT1 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, | 616084 |
| TRPM1 | Night blindness, congenital stationary (complete), 1C, autosomal recessive, | 613216 |
| TSPAN12 | Exudative vitreoretinopathy 5 | 613310 |
| TTC8 | Bardet-Biedl syndrome 8 | 615985 |
| TTC8 | ?Retinitis pigmentosa 51 | 613464 |
| TTLL5 | Cone-rod dystrophy 19 | 615860 |
| TUB | ?Retinal dystrophy and obesity, | 616188 |
| TUBGCP4 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | 616335 |
| TULP1 | Leber congenital amaurosis 15 | 613843 |
| TULP1 | Retinitis pigmentosa 14 | 600132 |
| TYR | Albinism, oculocutaneous, type IA, | 203100 |
| TYR | Albinism, oculocutaneous, type IB, | 606952 |
| TYR | Waardenburg syndrome/albinism, digenic, | 103470 |
| TYR | [Skin/hair/eye pigmentation 3 blue/green eyes], | 601800 |
| TYR | [Skin/hair/eye pigmentation 3 light/dark/freckling skin], | 601800 |
| TYR | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 601800 |
| TYRP1 | Albinism, oculocutaneous, type III, | 203290 |
| TYRP1 | [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], | 612271 |
| UBIAD1 | Corneal dystrophy, Schnyder type, | 121800 |
| UNC119 | ?Cone-rod dystrophy | 121800 |
| UNC119 | ?Immunodeficiency 13 | 615518 |
| UNC45B | ?Cataract 43 | 616279 |
| USH1C | Deafness, autosomal recessive 18A, | 602092 |
| USH1C | Usher syndrome, type 1C, | 276904 |
| USH1G | Usher syndrome, type 1G, | 606943 |
| USH2A | Retinitis pigmentosa 39 | 613809 |
| USH2A | Usher syndrome, type 2A, | 276901 |
| VAX1 | ?Microphthalmia, syndromic 11 | 614402 |
| VCAN | Wagner syndrome 1 | 143200 |
| VIM | ?Cataract 30 pulverulent, | 116300 |
| VSX1 | Keratoconus 1 | 148300 |
| VSX1 | ?Craniofacial anomalies and anterior segment dysgenesis syndrome, | 614195 |
| VSX2 | Microphthalmia with coloboma 3 | 610092 |
| VSX2 | Microphthalmia, isolated 2 | 610093 |
| WDPCP | ?Bardet-Biedl syndrome 15 | 615992 |
| WDPCP | ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, | 217085 |
| WDR19 | Nephronophthisis 13 | 614377 |
| WDR19 | Senior-Loken syndrome 8 | 616307 |
| WDR19 | ?Cranioectodermal dysplasia 4 | 614378 |
| WDR19 | ?Short-rib thoracic dysplasia 5 with or without polydactyly, | 614376 |
| WFS1 | Deafness, autosomal dominant 6/14/38, | 600965 |
| WFS1 | Wolfram syndrome, | 222300 |
| WFS1 | Wolfram-like syndrome, autosomal dominant, | 614296 |
| WFS1 | ?Cataract 41 | 116400 |
| WFS1 | {Diabetes mellitus, noninsulin-dependent, association with}, | 125853 |
| WRN | Werner syndrome, | 277700 |
| YAP1 | Coloboma, ocular, | 120433 |
| YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, | 120433 |
| YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, | 120433 |
| ZEB1 | Corneal dystrophy, Fuchs endothelial, 6 | 613270 |
| ZEB1 | Corneal dystrophy, posterior polymorphous, 3 | 609141 |
| ZNF408 | Retinitis pigmentosa 72 | 616469 |
| ZNF408 | ?Exudative vitreoretinopathy 6 | 616468 |
| ZNF423 | Joubert syndrome 19 | 614844 |
| ZNF423 | Nephronophthisis 14 | 614844 |
| ZNF513 | Retinitis pigmentosa 58 | 613617 |
| ZNF644 | Myopia 21 autosomal dominant, | 614167 |
Convierte el avance genómico en una mejora de la práctica clínica para las principales patologías oftalmológicas
Las RPs son un grupo de patologías con una alta heterogeneidad feno- y genotípica. Identificar la mutación causante es esencial para el diagnóstico preciso, exactitud del pronóstico y puede abrir acceso a ensayos clínicos para el paciente, además de permitir un diagnóstico temprano a otros familiares.
Se han descrito +800 mutaciones en el gen ABCA4, que causan una gran variabilidad fenotípica de la enfermedad; con patrones, por lo general, recesivos pero también algunos dominantes. Identificar la mutación es esencial para el diagnóstico y para una planificación familiar adecuada.
En Diciembre de 2017 la FDA aprobó la primer terapia génica in vivo para pacientes de LCA o RP causada por defectos en el gen RPE65. En Europa hay actualmente más de 40 ensayos clínicos abiertos para enfermedades del ojo, muchos de ellos actualmente reclutando pacientes con mutaciones específicas como causa de la patología.
En un contexto de historia familiar de glaucoma, la identificación presintomática de mutaciones causantes, abre opciones para un tratamiento temprano y dirigido, lo que puede ayudar a limitar la pérdida de visión e identificar la elegibilidad del paciente para estudios clínicos.
El diagnóstico genético puede ayudar identificar la patología concreta dentro de la familia de las neuropatías de nervio óptico, además de diferenciar éstas de otras patologías, incluso en estado pre-sintomático.
XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Alemania)
XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Francia)
XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Reino Unido)
Manejo terapéutico de pacientes con edema macular cistoide secundario (retinosis pigmentaria)
VITAL (síndrome de USHER inducido por mutación de MYO7A y retinotosis pigmentaria)
Argus® II Protocolo de viabilidad del sistema de estimulación retiniana (retinotosis pigmentaria)
