Choroidal dystrophy, central areolar 2: genes and variants
Choroidal dystrophy, central areolar 2 is linked to 1 analyzed protein (PRPH2). 1 DNA variants are known to cause it; 9 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Choroidal dystrophy, central areolar 2
PRPH2: Peripherin-2
It organizes and stabilizes the rim structure of photoreceptor outer-segment discs. Pathogenic variants cause a wide range of inherited retinal diseases including retinitis pigmentosa, pattern dystrophy, and macular dystrophy.
1 disease-causing and 9 uncertain variants in PRPH2 are linked to Choroidal dystrophy, central areolar 2.
Known disease-causing variants in Choroidal dystrophy, central areolar 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PRPH2 G167D | 167 | Lumenal | Disease-causing (★★) |
Same protein, different disease
- Retinitis pigmentosa is also caused by PRPH2 variants; they fall mostly in different places as the Choroidal dystrophy, central areolar 2 variants (14 disease-causing).
- Patterned dystrophy of the retinal pigment epithelium is also caused by PRPH2 variants; they fall mostly in different places as the Choroidal dystrophy, central areolar 2 variants (11 disease-causing).
- Stargardt disease is also caused by PRPH2 variants; they fall mostly in different places as the Choroidal dystrophy, central areolar 2 variants (4 disease-causing).
- Pigmentary retinal dystrophy is also caused by PRPH2 variants; they fall mostly in different places as the Choroidal dystrophy, central areolar 2 variants (3 disease-causing).
- Patterned macular dystrophy 1 is also caused by PRPH2 variants; they fall mostly in different places as the Choroidal dystrophy, central areolar 2 variants (3 disease-causing).
Diseases related to Choroidal dystrophy, central areolar 2
- Retinitis pigmentosa, also linked to PRPH2
- Stargardt disease, also linked to PRPH2
- Cone-rod dystrophy, also linked to PRPH2
- Vitelliform macular dystrophy 2, also linked to PRPH2
- Retinal disorder, also linked to PRPH2
- Patterned dystrophy of the retinal pigment epithelium, also linked to PRPH2
- Pigmentary retinal dystrophy, also linked to PRPH2
- Patterned macular dystrophy 1, also linked to PRPH2
Frequently asked questions
Which genes are linked to Choroidal dystrophy, central areolar 2?
In CATVariant, Choroidal dystrophy, central areolar 2 is linked to 1 analyzed protein: PRPH2 (Peripherin-2).
How many genetic variants are linked to Choroidal dystrophy, central areolar 2?
18 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Choroidal dystrophy, central areolar 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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