Central areolar pigment epithelial dystrophy.
7 affected and 4 normal individuals from three 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-hour urinary amino acid levels were normal.
D004585:Electrooculography; D004596:Electroretinography; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010857:Pigment Epithelium of Eye