Abstract
Abstract: :
Purpose: To describe an autosomal dominant macular dystrophy in a family of Native American descent. Methods: The family was studied by clinical examination and molecular genetic investigation. Fundus examination and color photography were performed to determine affectation. Electrophysiology was performed on selected individuals. Results: Presenting symptoms in the fourth and fifth decade of life included decreased vision, mild photophobia, and difficulty driving. The fundus phenotype showed drusenoid subretinal flecks throughout the macula . Electroretinogram, electrooculogram, and color vision were normal. Mutations in the peripherin/RDS gene was excluded by DNA sequencing. Exclusion of other macular dystrophy genes and loci are ongoing. Conclusions: We present a dominant macular dystrophy in a family of Native American descent. Although the phenotype is closest to age–related maculopathy, the age of onset is more consistent with a macular dystrophy of mid–life onset.
Keywords: macula/fovea • degenerations/dystrophies • candidate gene analysis