Central Areolar Pigment Epithelial Dystrophy (With 1 color plate)

Abstract

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.

An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

“…The variable expressivity of the disease gene was further highlighted by recent findings that showed NCMD and a clinically distinct phenotype referred to as central areolar pigment epithelial dystrophy (CAPED)3 4 to occur in separate but genealogically related branches of a single large North Carolina family. 5 This has led to the conclusion that the two disorders represent a single nosological entity and, therefore, have to be considered allelic.…”

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss

“…5 Extensive genealogical studies have revealed that several other diseases, thought originally to be distinct entities, central areolar pigment epithelial dystrophy, 6 central pigment epithelial and choroidal degeneration, 7 and central retinal pigment epithelial dystrophy, 8 arise in descendants of the original NCMD founders and are in fact manifestations of the variable expressivity of the condition. 9 Subsequently, families with NCMD unrelated to the original pedigree have been reported in the United Kingdom, 10 Texas, United States, 11 Central America, 12 and France.…”