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

  • Author(s): Kniazeva, M;
  • Traboulsi, EI;
  • Yu, Z;
  • Stefko, ST;
  • Gorin, MB;
  • Shugart, YY;
  • O'Connell, JR;
  • Blaschak, CJ;
  • Cutting, G;
  • Han, M;
  • Zhang, K
  • et al.
Abstract

PURPOSE:To report the localization of a gene causing drusen and macular degeneration 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 macular drusen in asymptomatic middle-aged individuals to atrophic macular lesions in two children and two elderly patients. We mapped the gene to chromosome 6q14 between markers D6S2258 and D6S1644. CONCLUSIONS:In a family with autosomal dominant drusen and atrophic macular degeneration, the gene maps to a 3.2-cM region on chromosome 6q14. This locus appears to be distinct from, but adjacent to, the loci for cone-rod dystrophy 7 (CORD7) and North Carolina macular dystrophy (MCDR1). Future identification of the gene responsible for the disease in this family will provide a better understanding of macular degeneration.

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