central areolar choroidal dystrophy
Findings
No curated finding names central areolar choroidal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
Definition from the Mondo Disease Ontology (MONDO:0008982), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Full-thickness macular holeHPOHP:0031152
- Very frequent (80% to 99% of cases)
- Hyperautofluorescent macular lesionHPOHP:0030631
- Very frequent (80% to 99% of cases)
- Foveal photoreceptor outer segment loss on macular OCTHPOHP:0030615
- Frequent (30% to 79% of cases)
- Fundus hypopigmentationHPOHP:0007894
- Frequent (30% to 79% of cases)
- Macular atrophyHPOHP:0007401
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- Slow decrease in visual acuityHPOHP:0007924
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
- Visual lossHPOHP:0000572
- Frequent (30% to 79% of cases)
- Absent retinal pigment epitheliumHPOHP:0007980
- Occasional (5% to 29% of cases)
- Choriocapillaris atrophyHPOHP:0030491
- Occasional (5% to 29% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Occasional (5% to 29% of cases)
Show the remaining 5
- DrusenHPOHP:0011510
- Occasional (5% to 29% of cases)
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- Occasional (5% to 29% of cases)
- Retinal pigment epithelial mottlingHPOHP:0007814
- Occasional (5% to 29% of cases)
- DyschromatopsiaHPOHP:0007641
- Very rare (1% to 4% of cases)
- NyctalopiaHPOHP:0000662
- Very rare (1% to 4% of cases)
Genes
3 genes
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.
Where it sits
Other names
4 names
Resolves to: central areolar choroidal dystrophy
- Also called
- areolar atrophy of the maculaCACDcentral areolar choroidal sclerosischoroidal dystrophy