RGDs registry under the 'Eye disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Cone rod dystrophy | Retinal disorders |
GUCY2D guanylate cyclase 2D, retinal ABCA4 ATP binding cassette subfamily A member 4 |
PubMed | Reports | |
| 2 | Retinitis pigmentosa |
•Tapetoretinal degeneration |
Retinal disorders |
FAM161A FAM161 centrosomal protein A PCARE photoreceptor cilium actin regulator EYS eyes shut homolog KLHL7 kelch like family member 7 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ARL6 ADP ribosylation factor like GTPase 6 RDH12 retinol dehydrogenase 12 USH2A usherin CERKL ceramide kinase like TTC8 tetratricopeptide repeat domain 8 BEST1 bestrophin 1 PRPF3 pre-mRNA processing factor 3 PRPF8 pre-mRNA processing factor 8 IMPG2 interphotoreceptor matrix proteoglycan 2 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) PRPF31 pre-mRNA processing factor 31 LRAT lecithin retinol acyltransferase MERTK MER proto-oncogene, tyrosine kinase IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta NR2E3 nuclear receptor subfamily 2 group E member 3 PROM1 prominin 1 CRB1 crumbs cell polarity complex component 1 RP1 RP1 axonemal microtubule associated TULP1 TUB like protein 1 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 CNGB1 cyclic nucleotide gated channel subunit beta 1 RGR retinal G protein coupled receptor RPGR retinitis pigmentosa GTPase regulator RP2 RP2 activator of ARL3 GTPase ROM1 retinal outer segment membrane protein 1 RHO rhodopsin PDE6G phosphodiesterase 6G PDE6B phosphodiesterase 6B PDE6A phosphodiesterase 6A PRPH2 peripherin 2 NRL neural retina leucine zipper IMPDH1 inosine monophosphate dehydrogenase 1 CNGA1 cyclic nucleotide gated channel subunit alpha 1 CA4 carbonic anhydrase 4 MAK male germ cell associated kinase CLRN1 clarin 1 DHDDS dehydrodolichyl diphosphate synthase subunit CFAP418 cilia and flagella associated protein 418 PRCD photoreceptor disc component CDHR1 cadherin related family member 1 RBP3 retinol binding protein 3 RP1L1 RP1 like 1 ARL2BP ADP ribosylation factor like GTPase 2 binding protein NEK2 NIMA related kinase 2 OFD1 OFD1 centriole and centriolar satellite protein SLC7A14 solute carrier family 7 member 14 KIZ kizuna centrosomal protein PRPF4 pre-mRNA processing factor 4 MYO7A myosin VIIA CRX cone-rod homeobox PRPF6 pre-mRNA processing factor 6 RDH11 retinol dehydrogenase 11 IFT140 intraflagellar transport 140 PANK2 pantothenate kinase 2 IFT172 intraflagellar transport 172 ZNF408 zinc finger protein 408 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase BBS2 Bardet-Biedl syndrome 2 TRNT1 tRNA nucleotidyl transferase 1 AGBL5 AGBL carboxypeptidase 5 RCBTB1 RCC1 and BTB domain containing protein 1 RLBP1 retinaldehyde binding protein 1 SEMA4A semaphorin 4A ZNF513 zinc finger protein 513 SAG S-antigen visual arrestin GUCA1B guanylate cyclase activator 1B PCDH15 protocadherin related 15 CDH23 cadherin related 23 AIPL1 aryl hydrocarbon receptor interacting protein like 1 SPATA7 spermatogenesis associated 7 REEP6 receptor accessory protein 6 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 HK1 hexokinase 1 SCAPER S-phase cyclin A associated protein in the ER CYP4V2 cytochrome P450 family 4 subfamily V member 2 AHI1 Abelson helper integration site 1 BBS1 Bardet-Biedl syndrome 1 BBS10 Bardet-Biedl syndrome 10 CEP290 centrosomal protein 290 RPGRIP1 RPGR interacting protein 1 CFAP410 cilia and flagella associated protein 410 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin COL18A1 collagen type XVIII alpha 1 chain EXOSC2 exosome component 2 IFT43 intraflagellar transport 43 VSX2 visual system homeobox 2 TTLL5 tubulin tyrosine ligase like 5 SLC24A1 solute carrier family 24 member 1 ARL3 ADP ribosylation factor like GTPase 3 DHX38 DEAH-box helicase 38 POC5 POC5 centriolar protein AHR aryl hydrocarbon receptor ADGRV1 adhesion G protein-coupled receptor V1 CHM CHM Rab escort protein CACNA1F calcium voltage-gated channel subunit alpha1 F ALMS1 ALMS1 centrosome and basal body associated protein BBS12 Bardet-Biedl syndrome 12 BBS9 Bardet-Biedl syndrome 9 RDH5 retinol dehydrogenase 5 CDH3 cadherin 3 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 KIAA1549 KIAA1549 P3H2 prolyl 3-hydroxylase 2 GNAT1 G protein subunit alpha transducin 1 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha BBS7 Bardet-Biedl syndrome 7 LCA5 lebercilin LCA5 VPS13B vacuolar protein sorting 13 homolog B CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 CLCC1 chloride channel CLIC like 1 KIF3B kinesin family member 3B NPHP4 nephrocystin 4 KIF11 kinesin family member 11 HKDC1 hexokinase domain containing 1 CC2D2A coiled-coil and C2 domain containing 2A RAX2 retina and anterior neural fold homeobox 2 |
PubMed | Reports |
| 3 | Congenital glaucoma | Pediatric-onset glaucoma |
CYP1B1 cytochrome P450 family 1 subfamily B member 1 |
PubMed | Reports | |
| 4 | Laurence-Moon syndrome | Retinal disorders |
PNPLA6 patatin like phospholipase domain containing 6 |
PubMed | Reports | |
| 5 | Leber congenital amaurosis | Retinal disorders |
LCA5 lebercilin LCA5 CEP290 centrosomal protein 290 SPATA7 spermatogenesis associated 7 RDH12 retinol dehydrogenase 12 RPGRIP1 RPGR interacting protein 1 AIPL1 aryl hydrocarbon receptor interacting protein like 1 CRB1 crumbs cell polarity complex component 1 CRX cone-rod homeobox GUCY2D guanylate cyclase 2D, retinal RPE65 retinoid isomerohydrolase RPE65 RD3 RD3 regulator of GUCY2D IMPDH1 inosine monophosphate dehydrogenase 1 TULP1 TUB like protein 1 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 GDF6 growth differentiation factor 6 RIMS1 regulating synaptic membrane exocytosis 1 NPHP1 nephrocystin 1 LRAT lecithin retinol acyltransferase PDE6A phosphodiesterase 6A AHI1 Abelson helper integration site 1 RP2 RP2 activator of ARL3 GTPase IQCB1 IQ motif containing B1 TUBB4B tubulin beta 4B class IVb USP45 ubiquitin specific peptidase 45 PROM1 prominin 1 INPP5E inositol polyphosphate-5-phosphatase E CFAP410 cilia and flagella associated protein 410 ALMS1 ALMS1 centrosome and basal body associated protein RPGRIP1L RPGRIP1 like |
PubMed | Reports | |
| 6 | Neuromyelitis optica spectrum disorder |
•Devic disease •Devic syndrome •Neuromyelitis optica |
Optic nerve disorders |
AQP4 aquaporin 4 |
PubMed | Reports |
| 7 | Persistent hyperplastic primary vitreous | Retinal disorders |
ATOH7 atonal bHLH transcription factor 7 |
PubMed | Reports | |
| 8 | Bardet-Biedl syndrome | Retinal disorders |
WDPCP WD repeat containing planar cell polarity effector SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 BBS12 Bardet-Biedl syndrome 12 BBS10 Bardet-Biedl syndrome 10 CEP290 centrosomal protein 290 TMEM67 transmembrane protein 67 MKS1 MKS transition zone complex subunit 1 ARL6 ADP ribosylation factor like GTPase 6 TTC8 tetratricopeptide repeat domain 8 BBS9 Bardet-Biedl syndrome 9 BBS7 Bardet-Biedl syndrome 7 BBS2 Bardet-Biedl syndrome 2 MKKS MKKS centrosomal shuttling protein BBS5 Bardet-Biedl syndrome 5 TRIM32 tripartite motif containing 32 BBS4 Bardet-Biedl syndrome 4 BBS1 Bardet-Biedl syndrome 1 CFAP418 cilia and flagella associated protein 418 LZTFL1 leucine zipper transcription factor like 1 BBIP1 BBSome interacting protein 1 IFT27 intraflagellar transport 27 IFT172 intraflagellar transport 172 IFT74 intraflagellar transport 74 TRAPPC3 trafficking protein particle complex subunit 3 CEP19 centrosomal protein 19 ALMS1 ALMS1 centrosome and basal body associated protein RPGRIP1L RPGRIP1 like TSPOAP1 TSPO associated protein 1 COMT catechol-O-methyltransferase |
PubMed | Reports | |
| 9 | Retinoblastoma | Retinal disorders |
RB1 RB transcriptional corepressor 1 FANCM FA complementation group M |
PubMed | Reports | |
| 10 | Congenital primary aphakia |
•Anterior segment dysgenesis 2 |
Lens diseases |
FOXE3 forkhead box E3 |
PubMed | Reports |
| 11 | Fraser syndrome |
•Cryptophthalmos syndrome •Fraser-cryptophthalmos syndrome |
Cryptophthalmia |
FREM2 FRAS1 related extracellular matrix 2 FRAS1 Fraser extracellular matrix complex subunit 1 GRIP1 glutamate receptor interacting protein 1 |
PubMed | Reports |
| 12 | Map-dot-fingerprint corneal dystrophy |
•Epithelial basement membrane dystrophy •Corneal epithelial dystrophy |
Corneal dystrophy |
TGFBI transforming growth factor beta induced |
PubMed | Reports |
| 13 | Doyne honeycomb retinal dystrophy |
•Familial drusen •Malattia leventinese |
Retinal disorders |
EFEMP1 EGF containing fibulin extracellular matrix protein 1 |
PubMed | Reports |
| 14 | Duane retraction syndrome |
•Duane syndrome •Duane anomaly •Stilling-Turk-Duane syndrome •DRS •DURS |
CHN1 chimerin 1 MAFB MAF bZIP transcription factor B |
PubMed | Reports | |
| 15 | Syndromic microphthalmia type 5 |
•MCOPS5 •Syndromic microphthalmia due to OTX2 mutation |
Microphthalmia-anophthalmia-coloboma |
OTX2 orthodenticle homeobox 2 |
PubMed | Reports |
| 16 | Stargardt disease |
•Fundus flavimaculatus •Stargardt 1 |
Retinal disorders |
ELOVL4 ELOVL fatty acid elongase 4 PROM1 prominin 1 ABCA4 ATP binding cassette subfamily A member 4 BEST1 bestrophin 1 CRX cone-rod homeobox FLVCR1 FLVCR choline and heme transporter 1 COL2A1 collagen type II alpha 1 chain PRPH2 peripherin 2 RDH12 retinol dehydrogenase 12 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 |
PubMed | Reports |
| 17 | Senior-Loken syndrome |
•Nephronophthisis with retinal dystrophy •Renal-retinal syndrome |
Retinal disorders |
SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 CEP290 centrosomal protein 290 IQCB1 IQ motif containing B1 NPHP4 nephrocystin 4 WDR19 WD repeat domain 19 TRAF3IP1 TRAF3 interacting protein 1 NPHP1 nephrocystin 1 |
PubMed | Reports |
| 18 | Schnyder crystalline corneal dystrophy |
•Crystalline stromal dystrophy •Schnyder corneal dystrophy •Schnyder's crystalline corneal dystrophy |
Corneal dystrophy |
UBIAD1 UbiA prenyltransferase domain containing 1 |
PubMed | Reports |
| 19 | Renal coloboma syndrome |
•Coloboma of optic nerve with renal disease •Optic nerve coloboma with renal disease •Papillorenal syndrome |
Optic nerve disorders |
PAX2 paired box 2 |
PubMed | Reports |
| 20 | Irido-corneo-trabecular dysgenesis |
•Peters Anomaly •Peters congenital glaucoma •Anterior segment dysgenesis 5 |
Pediatric-onset glaucoma |
CYP1B1 cytochrome P450 family 1 subfamily B member 1 PAX6 paired box 6 PTCH1 patched 1 FAT4 FAT atypical cadherin 4 FAT1 FAT atypical cadherin 1 PITX2 paired like homeodomain 2 BMP4 bone morphogenetic protein 4 ARHGAP35 Rho GTPase activating protein 35 COL4A1 collagen type IV alpha 1 chain |
PubMed | Reports |
| 21 | Nance-Horan syndrome |
•Cataract dental syndrome •Mesiodens cataract syndrome •Cataract X-linked with Hutchinsonian teeth |
Lens diseases |
NHS NHS actin remodeling regulator |
PubMed | Reports |
| 22 | Morning glory disc anomaly |
•Ectasic coloboma •Morning glory syndrome |
Optic nerve disorders |
PAX6 paired box 6 |
PubMed | Reports |
| 23 | Macular corneal dystrophy |
•Groenouw type II corneal dystrophy •Fehr corneal dystrophy •MCD •Macular dystrophy, corneal type 1 |
Corneal dystrophy |
CHST6 carbohydrate sulfotransferase 6 |
PubMed | Reports |
| 24 | Knobloch syndrome |
•Myopia retinal detachment encephalocele •Retinal detachment-occipital encephalocele syndrome •Knobloch-Layer syndrome |
Retinal disorders |
COL18A1 collagen type XVIII alpha 1 chain PAK2 p21 (RAC1) activated kinase 2 |
PubMed | Reports |
| 25 | Juvenile retinoschisis |
•X-linked retinoschisis •Retinoschisis juvenile X chromosome-linked •X-linked juvenile retinoschisis •XLRS |
Pediatric-onset glaucoma |
RS1 retinoschisin 1 |
PubMed | Reports |
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