choroidal dystrophy, central areolar 2
Findings
No curated finding names choroidal dystrophy, central areolar 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013137), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chorioretinal atrophyHPOHP:0000533
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRPH2HGNC:9942
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: choroidal dystrophy, central areolar 2
- Also called
- central areolar choroidal dystrophy caused by mutation in PRPH2choroidal dystrophy, central areolar type 2PRPH2 central areolar choroidal dystrophy