Purpose: To describe a German family with clinical and genetic evidence of autosomal dominant North Carolina macular dystrophy.
Methods: Twenty-six individuals from a five-generation family from northern Germany were investigated clinically. In addition, we performed genetic linkage analyses using polymorphic markers from proximal 6q.
Results: The affected family members showed clinical abnormalities consistent with North Carolina macular dystrophy including multiple drusen, choroidal neovascularization in one patient, and geographic atrophy in elderly patients. The DNA analyses demonstrated significant linkage to the North Carolina macular dystrophy locus on chromosome 6q14-q16.2.
Conclusion: Our findings provide strong evidence of a German pedigree with an autosomal dominant macular dystrophy manifesting with clinical abnormalities consistent with North Carolina macular dystrophy.