Seven affected and 4 normal individuals, from 3 consecutive generations of a family with central areolar pigment epithelial dystrophy, were examined. The pedigree was indicative of an autosomal dominant disorder with variable expression. The macular changes varied from numerous small drusen-like defects to large colobomatous appearing lesions, while the visual acuities ranged from 6/4 to 3/120. Some of those with excellent visual acuity had small central scotomata. Urinary metabolic screening, plasma amino acid levels and 24-h urinary amino acid levels were normal.