Overview
Choroidal dystrophies are a group of inherited disorders characterized by progressive atrophy of the choroid and overlying RPE, leading to central or peripheral vision loss. Central areolar choroidal dystrophy (CACD) presents with progressive macular atrophy and is caused by PRPH2 mutations. Helicoid peripapillary chorioretinal dystrophy (HPCD) shows a distinctive helicoid pattern of atrophy around the optic disc. These conditions are distinct from choroideremia and represent a separate group of choroidal degenerations.
Genetics
CACD is caused by PRPH2 mutations (allelic with RP and pattern dystrophy). HPCD is caused by TEAD1 mutations. Both autosomal dominant.
| Gene | Locus | Inheritance | Notes |
|---|---|---|---|
| PRPH2 | 6p21.1 | AD | Peripherin-2; central areolar choroidal dystrophy (CACD) |
| TEAD1 | 11p15.2 | AD | TEA domain transcription factor 1; helicoid peripapillary chorioretinal dystrophy |
Clinical Presentation
Early (3rd–5th decade)
- Mild central vision reduction
- Macular or peripapillary atrophy
- Metamorphopsia
Progressive
- Expanding choroidal atrophy
- Significant central vision loss
- Peripheral vision preserved
Diagnosis
- Fundus: Geographic choroidal atrophy — central (CACD) or helicoid (HPCD)
- OCT: Outer retinal and choroidal atrophy
- FAF: Hypoautofluorescent atrophic areas
- Genetic testing: PRPH2 (CACD), TEAD1 (HPCD)
Current Research & Treatment
No approved treatments. Anti-VEGF for CNV if present. PRPH2 gene therapy research is relevant for CACD.
Active Clinical Trials
The following active clinical trials are investigating treatments for Choroidal Dystrophies (Central Areolar & Helicoid). Trial status and enrollment may change; always verify directly on ClinicalTrials.gov.