Trait
Chorioretinal hypopigmentation
Focal or global or heterogeneous loss of choroidal and retinal pigment epithelium (RPE) pigmentation in the absence of atrophy.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test13 genes linked to Chorioretinal hypopigmentation
Changes in these genes cause rare conditions in which Chorioretinal hypopigmentation 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 |
|---|---|---|
| DCTdopachrome tautomerase | Always | In 1 condition |
| PAX6paired box 6 | Always | In 1 condition |
| WT1WT1 transcription factor | Always | In 1 condition |
| FASFas cell surface death receptor | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 1 condition |
| IFNGinterferon gamma | Often (30–79%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Often (30–79%) | In 1 condition |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 1 condition |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Sometimes (5–29%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sometimes (5–29%) | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Rarely (1–4%) | 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.
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.
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