choroidal dystrophy, central areolar, 1
MONDO:0024539Mondo
Findings
No curated finding names choroidal dystrophy, central areolar, 1 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 GUCY2D gene.
Definition from the Mondo Disease Ontology (MONDO:0024539), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 features
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.
- Choriocapillaris atrophyHPOHP:0030491
- Chorioretinal atrophyHPOHP:0000533
- Pigmentary retinopathyHPOHP:0000580
Where it sits
Other names
3 names
Resolves to: choroidal dystrophy, central areolar, 1
- Also called
- central areolar choroidal dystrophy caused by mutation in GUCY2Dchoroidal dystrophy, central areolar 1GUCY2D central areolar choroidal dystrophy