Autosomal Dominant Macular Dystrophy Simulating North Carolina Macular Dystrophy

Abstract

Objective:To characterize an autosomal dominant macular dystrophy with highly variable expression that does not fall clearly into a known disease entity.Methods and Patients:Clinical, angiographic, and electrophysiologic data of five affected members in a family of Indian origin were evaluated. Molecular genetic analysis was undertaken to assess whether the gene responsible for the phenotype in this pedigree mapped to a region previously assigned to dominantly inherited macular dystrophies, including North Carolina macular dystrophy.Results:The fundus appearance in the proband simulated stage 3 North Carolina macular dystrophy. Affected relatives had features in common with pattern dystrophy, fundus flavimaculatus with a dark choroid, and dominantly inherited drusen. Linkage to loci assigned to a number of retinal dystrophies principally affecting the posterior pole, including the North Carolina macular dystrophy locus, was excluded.Conclusion:The findings support the view that different genotypes are associated with similar phenotypes in autosomal dominant macular dystrophy.