We examined a family with fenestrated sheen macular dystrophy. The red macular lesions were strikingly apparent in the propositus and more subtle in one affected cousin. Pronounced macular retinal pigment epithelial disruption or mottling was present in the father of the propositus, who also had markedly reduced electroretinogram rod and cone responses. The extent of electroretinogram amplitude reduction indicates abnormal function of the peripheral retina in addition to the clinically evident macular changes. Affected family members showed peripheral retinal pigment epithelial granularity. Central visual acuity remained normal despite the presence of macular lesions.