Choroidal dystrophy, central areolar 2
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Sign InDescription
Central areolar choroidal dystrophy-2 (CACD2) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009). For a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 (215500).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
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