Autosomal dominant dystrophy of the retinal pigment epithelium

This study describes a salt-and-pepper fundus appearance in nine relatives in three generations of a single white kindred. Two of these patients also had subretinal patterned pigment figures by ophthalmoscopy. In another, fluorescein angiography showed a reticular pattern that was not apparent by ophthalmoscopy. This dystrophy was functionally benign, although the electro-oculogram ratio was abnormal in affected patients. This pigmentary dystrophy and fundus pulverulentus, reticular dystrophy of Benedikt and Werner, and pattern dystrophy of Marmor and Byers are indistinguishable. When patterned pigment figures are absent, this autosomal-dominant pigmentary dystrophy of the retinal pigment epithelium can be confused with other disorders such as congenital rubella retinopathy and drug toxicity.