Central areolar choroidal and retinal pigment epithelial dystrophy: a family report

Central areolar choroidal and retinal pigment epithelial dystrophy (CACD) is a rare hereditary macular disease characterized by a bilateral, symmetric, and well-circumscribed solitary area in the macula with choroidal and retinal pigment epithelial atrophy. We report a family of CACD confirmed by both clinical presentation and hereditary pattern. Three members of the family were examined. They had noticed gradual visual deterioration with poor color discrimination since the fourth to fifth decades. All of them showed a bilaterally symmetric bull's-eye pattern of macular dystrophy with a sharp border of underlying large or middle choroidal vessels, which was unassociated with any surrounding lesions. Fluorescein angiography revealed a transmission window defect due to retinal pigment epithelial atrophy with remaining choriocapillaris intermingled with a hypofluorescent area of choriocapillaris atrophy. Electroretinography revealed a mild reduction in the photopic amplitude, while the scotopic response was normal. A normal electro-oculography was also noted. The family history indicated autosomal dominant inheritance. The loss of visual acuity was caused by progressive atrophy of both the retinal pigment epithelium and the choriocapillaris. It is important to detect CACD in the early stages, because this diagnosis can exert a considerable influence on a patient's subsequent life.