GenTIGS

RGDs registry under the 'Eye disorders'

Disorder Name (Total=26)	Aliases	Sub-Category	Gene	Indian Reports	Link
Cone rod dystrophy Autosomal dominant, Autosomal recessive, X-linked dominant		Retinal disorders	GUCY2D guanylate cyclase 2D, retinal ABCA4 ATP binding cassette subfamily A member 4	Reports Updated as of Mar 09, 2023	PubMed
Retinitis pigmentosa Autosomal dominant, Autosomal recessive, X-linked dominant, MT inheritance	•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	Reports Updated as of Mar 09, 2023	PubMed
Congenital glaucoma Autosomal dominant, Autosomal recessive		Pediatric-onset glaucoma	CYP1B1 cytochrome P450 family 1 subfamily B member 1	Reports Updated as of Mar 09, 2023	PubMed
Laurence-Moon syndrome Autosomal recessive		Retinal disorders	PNPLA6 patatin like phospholipase domain containing 6	Reports Updated as of May 24, 2023	PubMed
Leber congenital amaurosis Autosomal recessive		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	Reports Updated as of May 24, 2023	PubMed
Neuromyelitis optica spectrum disorder	•Devic disease •Devic syndrome •Neuromyelitis optica	Optic nerve disorders	AQP4 aquaporin 4	Reports Updated as of Sep 05, 2023	PubMed
Persistent hyperplastic primary vitreous Autosomal dominant, Autosomal recessive		Retinal disorders	ATOH7 atonal bHLH transcription factor 7	Reports Updated as of Sep 05, 2023	PubMed
Bardet-Biedl syndrome Autosomal recessive		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	Reports Updated as of Sep 05, 2023	PubMed
Retinoblastoma Autosomal dominant		Retinal disorders	RB1 RB transcriptional corepressor 1 FANCM FA complementation group M	Reports Updated as of Nov 02, 2023	PubMed
Congenital primary aphakia Autosomal recessive	•Anterior segment dysgenesis 2	Lens diseases	FOXE3 forkhead box E3	Reports Updated as of Nov 30, 2023	PubMed
Fraser syndrome Autosomal recessive	•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	Reports Updated as of Dec 07, 2023	PubMed
Map-dot-fingerprint corneal dystrophy Autosomal dominant	•Epithelial basement membrane dystrophy •Corneal epithelial dystrophy	Corneal dystrophy	TGFBI transforming growth factor beta induced	Reports Updated as of Dec 07, 2023	PubMed
Doyne honeycomb retinal dystrophy Autosomal dominant	•Familial drusen •Malattia leventinese	Retinal disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports Updated as of Dec 07, 2023	PubMed
Duane retraction syndrome Autosomal dominant, Autosomal recessive	•Duane syndrome •Duane anomaly •Stilling-Turk-Duane syndrome •DRS •DURS	-	CHN1 chimerin 1 MAFB MAF bZIP transcription factor B	Reports Updated as of Dec 29, 2023	PubMed
Syndromic microphthalmia type 5 Autosomal dominant	•MCOPS5 •Syndromic microphthalmia due to OTX2 mutation	Microphthalmia-anophthalmia-coloboma	OTX2 orthodenticle homeobox 2	Reports Updated as of Dec 29, 2023	PubMed
Stargardt disease Autosomal dominant, Autosomal recessive	•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	Reports Updated as of Dec 29, 2023	PubMed
Senior-Loken syndrome Autosomal recessive	•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	Reports Updated as of Dec 29, 2023	PubMed
Schnyder crystalline corneal dystrophy Autosomal dominant	•Crystalline stromal dystrophy •Schnyder corneal dystrophy •Schnyder's crystalline corneal dystrophy	Corneal dystrophy	UBIAD1 UbiA prenyltransferase domain containing 1	Reports Updated as of Jan 04, 2024	PubMed
Renal coloboma syndrome Autosomal dominant	•Coloboma of optic nerve with renal disease •Optic nerve coloboma with renal disease •Papillorenal syndrome	Optic nerve disorders	PAX2 paired box 2	Reports Updated as of Jan 04, 2024	PubMed
Irido-corneo-trabecular dysgenesis Autosomal dominant, Autosomal recessive	•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	Reports Updated as of Jan 04, 2024	PubMed
Nance-Horan syndrome X-linked recessive	•Cataract dental syndrome •Mesiodens cataract syndrome •Cataract X-linked with Hutchinsonian teeth	Lens diseases	NHS NHS actin remodeling regulator	Reports Updated as of Feb 01, 2024	PubMed
Morning glory disc anomaly Autosomal dominant	•Ectasic coloboma •Morning glory syndrome	Optic nerve disorders	PAX6 paired box 6	Reports Updated as of Jan 04, 2024	PubMed
Macular corneal dystrophy Autosomal recessive	•Groenouw type II corneal dystrophy •Fehr corneal dystrophy •MCD •Macular dystrophy, corneal type 1	Corneal dystrophy	CHST6 carbohydrate sulfotransferase 6	Reports Updated as of Feb 01, 2024	PubMed
Knobloch syndrome Autosomal recessive	•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	Reports Updated as of Feb 01, 2024	PubMed
Juvenile retinoschisis X-linked dominant	•X-linked retinoschisis •Retinoschisis juvenile X chromosome-linked •X-linked juvenile retinoschisis •XLRS	Pediatric-onset glaucoma	RS1 retinoschisin 1	Reports Updated as of Feb 20, 2024	PubMed
Severe early-childhood-onset retinal dystrophy Autosomal recessive	•Stargardt disease 1 •Juvenile onset macular degeneration •early-onset severe retinal dystrophy •ABCA4-Related Stargardt Disease 1 •CNGB3-Related Stargardt Disease 1 •Stargardt macular dystrophy •Macular dystrophy with flecks, type 1 •STGD •EOSRD •SECORD	Retinal disorders	CNGB3 cyclic nucleotide gated channel subunit beta 3 ABCA4 ATP binding cassette subfamily A member 4	Reports Updated as of Feb 26, 2025	PubMed