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February 1995

Autosomal Dominant Macular Dystrophy Simulating North Carolina Macular Dystrophy

Author Affiliations

From the Departments of Clinical Ophthalmology (Drs Holz, Evans, and Bird) and Molecular Genetics (Drs Gregory and Bhattacharya), Institute of Ophthalmology, Moorfields Eye Hospital, London, England.

Arch Ophthalmol. 1995;113(2):178-184. doi:10.1001/archopht.1995.01100020062029

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.