Central areolar pigment epithelial dystrophy

We examined nine members of a family with a unique hereditary macular dystrophy by using stereoscopic color photography, fluorescein angiography, electroretinography, electro-oculography, dark adaptation, H-R-R color plates, and the Farnsworth-Munsell 100-hue test. The disorder was transmitted as an autosomal-dominant trait with increased penetrance and variable expression. Four of the family members, representing three successive generations, exhibited defects in macular pigmentation ranging from a 1-disk diameter excavation to a more subtle central loss of macular pigment. Only one eye with macular hemorrhage had decreased visual acuity; visual acuity in this eye was 20/25 when the hemorrhage resolved. All other retinal function studies were normal. The unusual nonprogressive areolar depigmentation of the central macula together with normal retinal functions made it impossible to classify this disorder, and indicated a new and unreported dominant macular dystrophy, central areolar pigment epithelial dystrophy.