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

Am J Ophthalmol. 2000 Aug;130(2):197-202. doi: 10.1016/s0002-9394(00)00585-7.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Atrophy
  • Child
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 6 / genetics*
  • DNA / analysis
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Infant
  • Lod Score
  • Macula Lutea / pathology
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Pedigree
  • Retinal Drusen / genetics*
  • Retinal Drusen / pathology


  • DNA