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 ... 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).
Waardenburg (1952) described central choroidal sclerosis in 2 daughters of a first-cousin marriage. Many others have reported sibs with central choroidal sclerosis and several instances of parental consanguinity are on record (e.g., Sorsby and Crick, 1953). Krill and ... Waardenburg (1952) described central choroidal sclerosis in 2 daughters of a first-cousin marriage. Many others have reported sibs with central choroidal sclerosis and several instances of parental consanguinity are on record (e.g., Sorsby and Crick, 1953). Krill and Archer (1971) described brother and sister with choriocapillaris atrophy throughout most of the posterior eyegrounds. Lotery et al. (1996) reported a large Northern Irish pedigree in which 19 individuals in 3 generations had central areolar choroidal dystrophy. CACD diagnosis was based on ophthalmic examination including stereo fundus photography, fluorescein angiography, and electrophysiologic testing. The family showed an autosomal dominant inheritance pattern. Linkage to the PRPH2 (179605), ROM1 (180721), RHO (180380), and PDE6B (180072) genes had been previously excluded.