Genetic fine mapping of the gene for recessive Stargardt disease

Hum Genet. 1996 Oct;98(4):500-4. doi: 10.1007/s004390050247.


Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM interval. Haplotype analysis in seven Dutch STGD families with 11 highly polymorphic markers spanning the critical region has enabled us to refine the location of the underlying gene to a 2-cM region flanked by the loci D1S406 and D1S236. We have identified one 45-year-old nonpenetrant individual who carries two disease alleles. In another family, an affected individual inherited the paternal but not the maternal disease chromosome, suggesting genetic heterogeneity or a different mechanism leading to the disease in this family.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Color Perception
  • Female
  • Genes, Recessive*
  • Genetic Markers
  • Humans
  • Lod Score
  • Macular Degeneration / genetics*
  • Male
  • Middle Aged
  • Netherlands
  • Pedigree
  • Polymorphism, Genetic


  • Genetic Markers