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.
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.
Authors: E E Tarttelin; C Y Gregory-Evans; A C Bird; R G Weleber; M L Klein; J Blackburn; K Gregory-Evans Journal: J Med Genet Date: 2001-06 Impact factor: 6.318
Authors: Zhenglin Yang; Zongzhong Tong; Louis J Chorich; Erik Pearson; Xian Yang; Anthony Moore; David M Hunt; Kang Zhang Journal: Vision Res Date: 2007-10-31 Impact factor: 1.886
Authors: Adam C Naj; William K Scott; Monique D Courtenay; William H Cade; Stephen G Schwartz; Jaclyn L Kovach; Anita Agarwal; Gaofeng Wang; Jonathan L Haines; Margaret A Pericak-Vance Journal: Ann Hum Genet Date: 2013-05 Impact factor: 1.670