Explore the Genome

Gene Index

Browse genes associated with inherited retinal diseases, organized alphabetically with inheritance patterns and chromosomal locations.

Showing 125 of 125 genes

A

ATP binding cassette subfamily A member 4

Chromosome: 1p22.1

ADAM metallopeptidase with thrombospondin type 1 motif 18

Chromosome: 16q23.1

adhesion G protein-coupled receptor V1

Chromosome: 5q14.3

aryl hydrocarbon receptor interacting protein like 1

Chromosome: 17p13.1

Alstrom syndrome 1

Chromosome: 2p13.1

ADP Ribosylation Factor Like GTPase 6

B

BBSome Interacting Protein 1

Bardet-Biedl syndrome 1

Chromosome: 11q13.2

Bardet-Biedl syndrome 10

Chromosome: 12q21.2

Bardet-Biedl syndrome 12

Chromosome: 4q27

Bardet-Biedl syndrome 2

Chromosome: 16q13

Bardet-Biedl syndrome 4

Chromosome: 15q22.31

Bardet-Biedl syndrome 5

Chromosome: 2q31.1

Bardet-Biedl syndrome 7

Chromosome: 4q27

Bardet-Biedl syndrome 9

Chromosome: 7p14.3

bestrophin 1

Chromosome: 11q12.3

C

Chromosome 8 Open Reading Frame 37

calcium voltage-gated channel subunit alpha1 F

Chromosome: Xp11.23

X-linked Recessive

cadherin related 23

Chromosome: 10q21.1

Centrosomal Protein 164

centrosomal protein 290

Chromosome: 12q21.32

Cilia And Flagella Associated Protein 418

choroideremia regulator of Rab3 GTPase activity

Chromosome: Xq21.2

X-linked Recessive

calcium and integrin binding family member 2

Chromosome: 15q25.1

CLN3 lysosomal/endosomal transmembrane protein, battenin

Chromosome: 16p12.1

clarin 1

Chromosome: 3q25.1

Cyclic Nucleotide Gated Channel Alpha 1

Chromosome: 10q21.1

Cyclic Nucleotide Gated Channel Alpha 3

Chromosome: 2q11.2

Cyclic Nucleotide Gated Channel Beta 1

Chromosome: 16q13

Cyclic Nucleotide Gated Channel Beta 3

Chromosome: 8q21.3

Collagen type II alpha 1 chain

Chromosome: 12q13.11

Collagen type IX alpha 1 chain

Chromosome: 6q13

Crumbs Family Member 1, Polarity Complex Component

Chromosome: 1q31.3

cone-rod homeobox

Chromosome: 19q13.32

cytochrome P450 family 4 subfamily V member 2

Chromosome: 4q28.2

D

deafness, autosomal recessive 31

Chromosome: 9q32

E

EGF containing fibulin-like extracellular matrix protein 1

Chromosome: 2p16.1

ELOVL fatty acid elongase 4

Chromosome: 6q14.1

eyes shut homolog

Chromosome: 6q12

F

family with sequence similarity 161 member A

Chromosome: 2p21

frizzled class receptor 4

Chromosome: 11q14.2

G

G protein-coupled receptor kinase 1

Chromosome: 13q34

guanylate cyclase activator 1A

Chromosome: 6p21.1

guanylate cyclase 2D, retinal

Chromosome: 17p13.1

I

Intraflagellar Transport 27

Intraflagellar Transport 74

inosine monophosphate dehydrogenase 1

Chromosome: 7q32.1

interphotoreceptor matrix proteoglycan 2

Chromosome: 3q12.1

IQ motif containing B1

Chromosome: 3q21.1

J

Jagged Canonical Notch Ligand 1

Chromosome: 20p12.2

K

Potassium Inwardly Rectifying Channel Subfamily J Member 13

Chromosome: 2q37.1

AR Recessive, Autosomal Dominant

Potassium voltage-gated channel subfamily V member 2

Chromosome: 9p24.1

L

Lebercilin

Chromosome: 6q14.1

Lecithin Retinol Acyltransferase

Chromosome: 4q32.1

LDL receptor related protein 5

Chromosome: 11q13.2

Leucine Zipper Transcription Factor Like 1

M

Male Germ Cell Associated Kinase

Chromosome: 6p21.31

MER Proto-Oncogene Tyrosine Kinase

Chromosome: 2q14.1

Mitofusin 2

Chromosome: 1p36.22

McKusick-Kaufman Syndrome Regulator

Chromosome: 20p12.3

Meckel Syndrome Type 1

Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1

Chromosome: Mitochondrial (MT: 3,307-4,262)

NADH:Ubiquinone Oxidoreductase Core Subunit 4

Chromosome: mitochondrial

Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6

Chromosome: Mitochondrial (MT)

Mitochondrially Encoded tRNA-Leu (UUA/G) 1

Chromosome: Mitochondrial (MT: 3,230-3,304)

Mitochondrial (Maternal)

Myosin VIIA

Chromosome: 11q13.5

N

Norrin F-box protein

Chromosome: Xp11.4

X-linked Recessive

Nicotinamide nucleotide adenylyltransferase 1

Chromosome: 1p36.22

Notch receptor 2

Chromosome: 1p12

Nephrocystin 1

Nuclear receptor subfamily 2 group E member 3

Chromosome: 15q23

Neural retina-specific leucine zipper protein

Chromosome: 14q11.2

Nyctalopin

Chromosome: Xp11.4

X-linked Recessive

O

ornithine aminotransferase

Chromosome: 10q26.13

OPA1 mitochondrial dynamin like GTPase

Chromosome: 3q29

Outer mitochondrial membrane lipid metabolism regulator OPA3

Chromosome: 19q13.32

AR Dominant, Autosomal Recessive

Opsin 1, Long-Wave-Sensitive

Chromosome: Xq28

Opsin 1, Medium-Wave-Sensitive

Chromosome: Xq28

Opsin 1, Medium Wave Sensitive 2

Chromosome: Xq28

Opsin 1, short-wave-sensitive

Chromosome: 7q32.1

P

protocadherin 15

Chromosome: 10q21.1

phosphodiesterase 6A, cGMP-specific, rod, alpha

Chromosome: 5q32

phosphodiesterase 6B, cGMP-specific, rod, beta

Chromosome: 4q22.1

phosphodiesterase 6C, cGMP-specific, cone, alpha'

Chromosome: 10q24.33

Phosphodiesterase 6H, cGMP-specific, cone, gamma

Chromosome: 12q13

Peroxisomal biogenesis factor 1

Chromosome: 7q21.2

Peroxisomal biogenesis factor 10

Chromosome: 1p36.32

Peroxisomal Biogenesis Factor 12

Chromosome: 17q12

Peroxisome biogenesis factor 26

Chromosome: 22q11.21

Peroxisomal biogenesis factor 6

Chromosome: 6p21.1

peroxisomal biogenesis factor 7

Chromosome: 6q21

phytanoyl-CoA hydroxylase

Chromosome: 10p13

Phospholipase A2 Group V

Chromosome: 1p36.13

PR/SET domain 13

Chromosome: 6q16.1

pre-mRNA processing factor 3

Chromosome: 1q21.2

pre-mRNA processing factor 31

Chromosome: 19q13.42

pre-mRNA processing factor 8

Chromosome: 17p13.3

peripherin 2

Chromosome: 6p21.1

R

retinol dehydrogenase 12

Chromosome: 14q24.1

Retinol dehydrogenase 5

Chromosome: 12q13.2

Rhodopsin

Chromosome: 3q22.1

AR dominant, autosomal recessive

Retinaldehyde binding protein 1

Chromosome: 15q26.1

Rod outer segment membrane protein 1

Chromosome: 11q13

AR dominant, digenic

Retinitis pigmentosa 1

Chromosome: 8q12.1

AR dominant, autosomal recessive

Retinitis pigmentosa 2

Chromosome: Xp11.3-p11.23

X-linked recessive

retinoid isomerohydrolase

Chromosome: 1p31.3

retinitis pigmentosa GTPase regulator

Chromosome: Xp11.4

X-linked Recessive

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Chromosome: 14q11.2

retinoschisin 1

Chromosome: Xp22.13

X-linked Recessive

S

S-antigen visual arrestin

Chromosome: 2q37.3

S-Phase Cyclin A Associated Protein In The ER

Sodium Channel And Clathrin Linker 1

Serologically Defined Colon Cancer Antigen 8

small nuclear ribonucleoprotein U5 subunit 200

Chromosome: 2q11.2

SPATA7, spermatogenesis associated protein 7

Chromosome: 14q32.11

T

TIMP metallopeptidase inhibitor 3

Chromosome: 22q12.3

TOPORS, topoisomerase I binding RS domain containing

Chromosome: 9p21.1

TRIM32, tripartite motif containing 32

Chromosome: 9q33.1

Tetratricopeptide Repeat Domain 8

TULP1, tubby like protein 1

Chromosome: 6p21.31

U

Usher syndrome type 1C

Chromosome: 11p15.1

Usher syndrome type 2A

Chromosome: 1q41

V

Vacuolar protein sorting 13 homolog B

Chromosome: 8q22.2

W

WD Repeat Containing Planar Cell Polarity Effector

Wolframin ER transmembrane glycoprotein

Chromosome: 4p16.1

AR recessive, Autosomal dominant

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice. It is not a substitute for seeking medical opinions, nor an endorsement of any treatments, research, or organizations. Trial information is sourced from ClinicalTrials.gov and public press releases. Genetic testing and clinical management should be performed by qualified healthcare professionals, including ophthalmologists and genetic counselors.