A new locus for dominant drusen and macular degeneration maps to chromosome 6q14

PURPOSE: To report the localization of a gene causing drusen and macular de generation in a previously undescribed North American family. METHODS: Genetic mapping studies were performed using linkage analysis in a single family with drusen and atrophic macular degeneration. RESULTS: The clinical manifestations in this family ranged from fine macula r drusen in asymptomatic middle-aged individuals to atrophic macular lesion s in two children and two elderly patients. We mapped the gene to chromosom e 6q14 between markers D6S2258 and D6S1644. CONCLUSIONS: In a family with autosomal dominant drusen and atrophic macula r degeneration, the gene maps to a 3.2-cM region on chromosome 6q14. This l ocus appears to be distinct from, but adjacent to, the loci for cone-rod dy strophy 7 (CORD7) and North Carolina macular dystrophy (MCDR1). Future iden tification of the gene responsible for the disease in this family will prov ide a better understanding of macular degeneration. (C) 2000 by Elsevier Sc ience Inc. All rights reserved.