Trait
Abnormal retinal pigmentation
Any deviation from the normal pigmentation of the retina.
Summary
- Also called
- Abnormality of retinal pigment epithelium, Abnormality of retinal pigmentation, Abnormality of RPE, Retinal pigmentary anomaly
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormal retinal pigmentation, and the rest of your genome, with one test.
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Get my Genome Test236 genes linked to Abnormal retinal pigmentation
Changes in these genes cause rare conditions in which Abnormal retinal pigmentation is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Very often (80–99%) | In 2 conditions |
| ADAM9ADAM metallopeptidase domain 9 | Very often (80–99%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Very often (80–99%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Very often (80–99%) | In 1 condition |
| AHRaryl hydrocarbon receptor | Very often (80–99%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Very often (80–99%) | In 2 conditions |
| ALMS1ALMS1 centrosome and basal body associated protein | Very often (80–99%) | In 2 conditions |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Very often (80–99%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Very often (80–99%) | In 1 condition |
| ARL3ARF like GTPase 3 | Very often (80–99%) | In 1 condition |
| ARL6ARF like GTPase 6 | Very often (80–99%) | In 1 condition |
| ATF6activating transcription factor 6 | Very often (80–99%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Very often (80–99%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Very often (80–99%) | In 1 condition |
| BEST1bestrophin 1 | Very often (80–99%) | In 2 conditions |
| CA4carbonic anhydrase 4 | Very often (80–99%) | In 1 condition |
| CABP4calcium binding protein 4 | Very often (80–99%) | In 2 conditions |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Very often (80–99%) | In 1 condition |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Very often (80–99%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 1 condition |
| CDH3cadherin 3 | Very often (80–99%) | In 1 condition |
| CDHR1cadherin related family member 1 | Very often (80–99%) | In 2 conditions |
| CEP164centrosomal protein 164 | Very often (80–99%) | In 1 condition |
| CEP290centrosomal protein 290 | Very often (80–99%) | In 2 conditions |
| CERKLCERK like autophagy regulator | Very often (80–99%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Very often (80–99%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Very often (80–99%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Very often (80–99%) | In 2 conditions |
| CHMCHM Rab escort protein | Very often (80–99%) | In 1 condition |
| CLDN19claudin 19 | Very often (80–99%) | In 1 condition |
| CLRN1clarin 1 | Very often (80–99%) | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Very often (80–99%) | In 1 condition |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Very often (80–99%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Very often (80–99%) | In 1 condition |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Very often (80–99%) | In 1 condition |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Very often (80–99%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 3 conditions |
| CRXcone-rod homeobox | Very often (80–99%) | In 3 conditions |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 1 condition |
Show 196 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DHX38DEAH-box helicase 38 | Very often (80–99%) | In 1 condition |
| DRAM2DNA damage regulated autophagy modulator 2 | Very often (80–99%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Very often (80–99%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Very often (80–99%) | In 1 condition |
| FAM161AFAM161 centrosomal protein A | Very often (80–99%) | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Very often (80–99%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Very often (80–99%) | In 2 conditions |
| GDF6growth differentiation factor 6 | Very often (80–99%) | In 1 condition |
| GNAT2G protein subunit alpha transducin 2 | Very often (80–99%) | In 1 condition |
| GUCA1Aguanylate cyclase activator 1A | Very often (80–99%) | In 2 conditions |
| GUCA1Bguanylate cyclase activator 1B | Very often (80–99%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Very often (80–99%) | In 2 conditions |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Very often (80–99%) | In 1 condition |
| HKDC1hexokinase domain containing 1 | Very often (80–99%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Very often (80–99%) | In 1 condition |
| IFT140intraflagellar transport 140 | Very often (80–99%) | In 3 conditions |
| IFT172intraflagellar transport 172 | Very often (80–99%) | In 2 conditions |
| IFT43intraflagellar transport 43 | Very often (80–99%) | In 1 condition |
| IFT54intraflagellar transport 54 | Very often (80–99%) | In 1 condition |
| IFT88intraflagellar transport 88 | Very often (80–99%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Very often (80–99%) | In 2 conditions |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Very often (80–99%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Very often (80–99%) | In 1 condition |
| INVSinversin | Very often (80–99%) | In 1 condition |
| IQCB1IQ motif containing B1 | Very often (80–99%) | In 2 conditions |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Very often (80–99%) | In 2 conditions |
| KIAA1549KIAA1549 | Very often (80–99%) | In 1 condition |
| KIZkizuna centrosomal protein | Very often (80–99%) | In 1 condition |
| KLHL7kelch like family member 7 | Very often (80–99%) | In 1 condition |
| LCA5lebercilin LCA5 | Very often (80–99%) | In 2 conditions |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Very often (80–99%) | In 3 conditions |
| MAKmale germ cell associated kinase | Very often (80–99%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Very often (80–99%) | In 1 condition |
| MFSD8major facilitator superfamily domain containing 8 | Very often (80–99%) | In 1 condition |
| NEK2NIMA related kinase 2 | Very often (80–99%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Very often (80–99%) | In 2 conditions |
| NPHP1nephrocystin 1 | Very often (80–99%) | In 1 condition |
| NPHP3nephrocystin 3 | Very often (80–99%) | In 1 condition |
| NPHP4nephrocystin 4 | Very often (80–99%) | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Very often (80–99%) | In 1 condition |
| NRLneural retina leucine zipper | Very often (80–99%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Very often (80–99%) | In 1 condition |
| OPN1LWopsin 1, long wave sensitive | Very often (80–99%) | In 2 conditions |
| OPN1MWopsin 1, medium wave sensitive | Very often (80–99%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 3 conditions |
| PAX6paired box 6 | Very often (80–99%) | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Very often (80–99%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 2 conditions |
| PDE6Aphosphodiesterase 6A | Very often (80–99%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Very often (80–99%) | In 1 condition |
| PDE6Cphosphodiesterase 6C | Very often (80–99%) | In 1 condition |
| PDE6Gphosphodiesterase 6G | Very often (80–99%) | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Very often (80–99%) | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Very often (80–99%) | In 1 condition |
| PITPNM3PITPNM family member 3 | Very often (80–99%) | In 1 condition |
| PLK4polo like kinase 4 | Very often (80–99%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Very often (80–99%) | In 1 condition |
| POC1BPOC1 centriolar protein B | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| PRCDphotoreceptor disc component | Very often (80–99%) | In 1 condition |
| PROM1prominin 1 | Very often (80–99%) | In 2 conditions |
| PRPF3pre-mRNA processing factor 3 | Very often (80–99%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Very often (80–99%) | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Very often (80–99%) | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Very often (80–99%) | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Very often (80–99%) | In 1 condition |
| PRPH2peripherin 2 | Very often (80–99%) | In 4 conditions |
| RAB28RAB28, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| RAX2retina and anterior neural fold homeobox 2 | Very often (80–99%) | In 1 condition |
| RBP3retinol binding protein 3 | Very often (80–99%) | In 1 condition |
| RD3RD3 regulator of GUCY2D | Very often (80–99%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Very often (80–99%) | In 2 conditions |
| REEP6receptor accessory protein 6 | Very often (80–99%) | In 1 condition |
| RGRretinal G protein coupled receptor | Very often (80–99%) | In 1 condition |
| RHOrhodopsin | Very often (80–99%) | In 1 condition |
| RIMS1regulating synaptic membrane exocytosis 1 | Very often (80–99%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| RNF216ring finger protein 216 | Very often (80–99%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-1RNA, U6 small nuclear 1 | Very often (80–99%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Very often (80–99%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Very often (80–99%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Very often (80–99%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Very often (80–99%) | In 1 condition |
| RP1L1RP1 like 1 | Very often (80–99%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Very often (80–99%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Very often (80–99%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Very often (80–99%) | In 3 conditions |
| RPGRretinitis pigmentosa GTPase regulator | Very often (80–99%) | In 2 conditions |
| RPGRIP1RPGR interacting protein 1 | Very often (80–99%) | In 2 conditions |
| SAGS-antigen visual arrestin | Very often (80–99%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Very often (80–99%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Very often (80–99%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Very often (80–99%) | In 1 condition |
| SEMA4Asemaphorin 4A | Very often (80–99%) | In 2 conditions |
| SLC45A2solute carrier family 45 member 2 | Very often (80–99%) | In 1 condition |
| SLC7A14solute carrier family 7 member 14 | Very often (80–99%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Very often (80–99%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Very often (80–99%) | In 3 conditions |
| TLCD3BTLC domain containing 3B | Very often (80–99%) | In 1 condition |
| TMEM216transmembrane protein 216 | Very often (80–99%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Very often (80–99%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Very often (80–99%) | In 1 condition |
| TTLL5tubulin tyrosine ligase like 5 | Very often (80–99%) | In 1 condition |
| TUBTUB bipartite transcription factor | Very often (80–99%) | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Very often (80–99%) | In 1 condition |
| TUBGCP4tubulin gamma complex component 4 | Very often (80–99%) | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | Very often (80–99%) | In 2 conditions |
| TULP1TUB like protein 1 | Very often (80–99%) | In 2 conditions |
| TYRtyrosinase | Very often (80–99%) | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Very often (80–99%) | In 1 condition |
| UNC119unc-119 lipid binding chaperone | Very often (80–99%) | In 1 condition |
| USH2Ausherin | Very often (80–99%) | In 1 condition |
| USP45ubiquitin specific peptidase 45 | Very often (80–99%) | In 1 condition |
| WDR19WD repeat domain 19 | Very often (80–99%) | In 2 conditions |
| ZNF408zinc finger protein 408 | Very often (80–99%) | In 1 condition |
| ZNF513zinc finger protein 513 | Very often (80–99%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| CFHcomplement factor H | Often (30–79%) | In 1 condition |
| CFIcomplement factor I | Often (30–79%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Often (30–79%) | In 1 condition |
| CPceruloplasmin | Often (30–79%) | In 1 condition |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Often (30–79%) | In 1 condition |
| ELMO2engulfment and cell motility 2 | Often (30–79%) | In 1 condition |
| HCCSholocytochrome c synthase | Often (30–79%) | In 1 condition |
| KIF11kinesin family member 11 | Often (30–79%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Often (30–79%) | In 1 condition |
| MC1Rmelanocortin 1 receptor | Often (30–79%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Often (30–79%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 1 condition |
| PEPDpeptidase D | Often (30–79%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Often (30–79%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Often (30–79%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Often (30–79%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Often (30–79%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Often (30–79%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Often (30–79%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Often (30–79%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Often (30–79%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Often (30–79%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Often (30–79%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Often (30–79%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Often (30–79%) | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 1 condition |
| TNFRSF11ATNF receptor superfamily member 11a | Often (30–79%) | In 1 condition |
| TNFRSF11BTNF receptor superfamily member 11b | Often (30–79%) | In 1 condition |
| WRNWRN RecQ like helicase | Often (30–79%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Sometimes (5–29%) | In 1 condition |
| CBScystathionine beta-synthase | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| EDN3endothelin 3 | Sometimes (5–29%) | In 1 condition |
| EDNRBendothelin receptor type B | Sometimes (5–29%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 1 condition |
| MCOLN1mucolipin TRP cation channel 1 | Sometimes (5–29%) | In 1 condition |
| MFRPmembrane frizzled-related protein | Sometimes (5–29%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| PRSS56serine protease 56 | Sometimes (5–29%) | In 1 condition |
| RAXretina and anterior neural fold homeobox | Sometimes (5–29%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Sometimes (5–29%) | In 1 condition |
| SIX6SIX homeobox 6 | Sometimes (5–29%) | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Sometimes (5–29%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| TAF2TATA-box binding protein associated factor 2 | Sometimes (5–29%) | In 1 condition |
| TMEM98transmembrane protein 98 | Sometimes (5–29%) | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Sometimes (5–29%) | In 1 condition |
| TTPAalpha tocopherol transfer protein | Sometimes (5–29%) | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Sometimes (5–29%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sometimes (5–29%) | In 1 condition |
| FLNBfilamin B | Rarely (1–4%) | In 1 condition |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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