Photoreceptor dysfunction in central areolar choroidal dystrophy

Central areolar choroidal dystrophy (CACD) is a rare, bilateral, autosomal dominant macular dystrophy. Early in the course of the dystrophy, there is fine, symmetric mottling of the retinal pigment epithelium in the macula, often in a bull's-eye pattern. This progresses to geographic atrophy of the macula without noticeable drusen or flecks. This article describes the funduscopic, angiographic, and electrophysiologic findings in three patients with three generations of a pedigree with CACD. Generalized photoreceptor dysfunction was present in the oldest patient and manifested by delayed electroretinographic implicit timing. Age-related generalized photoreceptor abnormality is hypothesized in CACD.