A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

Nat Genet. 1993 Nov;5(3):308-11. doi: 10.1038/ng1193-308.


Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7-12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21-p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Recombination, Genetic
  • Retinal Diseases / genetics*