Trait
Chorioretinal atrophy
Atrophy (wasting) of the choroid and retinal layers of the fundus.
Summary
- Also called
- Chorioretinal degeneration, Chorioretinal thinning
- 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 Chorioretinal atrophy, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test55 genes linked to Chorioretinal atrophy
Changes in these genes cause rare conditions in which Chorioretinal atrophy 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Always | In 1 condition |
| CHMCHM Rab escort protein | Always | In 2 conditions |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Always | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Always | In 1 condition |
| COL9A1collagen type IX alpha 1 chain | Always | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Always | In 3 conditions |
| NHEJ1non-homologous end joining factor 1 | Always | In 1 condition |
| OATornithine aminotransferase | Always | In 2 conditions |
| PNPLA6patatin like domain 6, lysophospholipase | Always | In 3 conditions |
| POU3F4POU class 3 homeobox 4 | Very often (80–99%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Very often (80–99%) | In 1 condition |
| C1QTNF5C1q and TNF related 5 | Often (30–79%) | In 2 conditions |
| CRB1crumbs cell polarity complex component 1 | Often (30–79%) | In 1 condition |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Often (30–79%) | In 2 conditions |
| HMX1H6 family homeobox 1 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| VCANversican | Often (30–79%) | In 2 conditions |
| ZNF408zinc finger protein 408 | Often (30–79%) | In 2 conditions |
| ALMS1ALMS1 centrosome and basal body associated protein | Sometimes (5–29%) | In 1 condition |
| CABP4calcium binding protein 4 | Sometimes (5–29%) | In 1 condition |
| CLCN2chloride voltage-gated channel 2 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| DPP6dipeptidyl peptidase like 6 | Sometimes (5–29%) | In 1 condition |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 1 condition |
| GUCA1Aguanylate cyclase activator 1A | Sometimes (5–29%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sometimes (5–29%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sometimes (5–29%) | In 1 condition |
| LCA5lebercilin LCA5 | Sometimes (5–29%) | In 1 condition |
| LIM2lens intrinsic membrane protein 2 | Sometimes (5–29%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Sometimes (5–29%) | In 1 condition |
| PRPH2peripherin 2 | Sometimes (5–29%) | In 4 conditions |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Sometimes (5–29%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Sometimes (5–29%) | In 2 conditions |
| SPATA7spermatogenesis associated 7 | Sometimes (5–29%) | In 1 condition |
| TIMP3TIMP metallopeptidase inhibitor 3 | Sometimes (5–29%) | In 2 conditions |
Show 15 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TSPAN12tetraspanin 12 | Sometimes (5–29%) | In 1 condition |
| COL8A2collagen type VIII alpha 2 chain | Rarely (1–4%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Rarely (1–4%) | In 1 condition |
| GRHL2grainyhead like transcription factor 2 | Rarely (1–4%) | In 1 condition |
| OVOL2ovo like zinc finger 2 | Rarely (1–4%) | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Rarely (1–4%) | In 2 conditions |
| VSX1visual system homeobox 1 | Rarely (1–4%) | In 1 condition |
| ZEB1zinc finger E-box binding homeobox 1 | Rarely (1–4%) | In 1 condition |
| CRXcone-rod homeobox | Not recorded | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Not recorded | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Not recorded | In 1 condition |
| NRLneural retina leucine zipper | Not recorded | In 1 condition |
| PAX2paired box 2 | Not recorded | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Not recorded | In 1 condition |
| SAGS-antigen visual arrestin | 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.
Narrower traits
Broader traits
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks