North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease
K. W. Small, V. Hermsen, N. Gurney, C. L. Fetkenhour and J. C. Folk
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
The autosomal-dominant macular dystrophies known as North Carolina macular
dystrophy and central areolar pigment epithelial dystrophy were originally
described as distinct disease entities in three separate families. However,
these disorders have several phenotypic features in common. The single
large family with North Carolina macular dystrophy, which descended from
three Irish brothers in 1790, has undergone extensive genealogic studies
expanding the kindred to more than 2000 family members. As a result, two
previously described families with central areolar pigment epithelial
dystrophy have been found to descend from these same three Irish brothers
with North Carolina macular dystrophy and, therefore, also have North
Carolina macular dystrophy. This helps simplify the nosology of the disease
and expands the phenotype of North Carolina macular dystrophy to include
choroidal neovascular membranes.
