Central areolar choroidal dystrophy (CACD) 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).
Genetic Heterogeneity of Central Areolar Choroidal Dystrophy
CACD2 (613105) is caused by mutation in the PRPH2 gene (179605) on chromosome 6p21. See also CACD3 (613144) for a family in which linkage to the PRPH2 gene and chromosome 17p13 has been excluded. [from
OMIM]