Retinitis pigmentosa: problems associated with genetic classification

Clin Genet. 1993 Aug;44(2):62-70. doi: 10.1111/j.1399-0004.1993.tb03848.x.


Genetic classification of retinitis pigmentosa (RP) can be problematic, due to a large number of isolated cases, reduced penetrance, and considerable variation in expressivity. Another confounder is a high proportion of affected female carriers in X-linked RP. Based on the genetic definitions of five different authors, a reclassification experiment was conducted with 350 Danish families. Agreement existed about a small "nucleus" of familial cases. Most definitions favored autosomal dominant inheritance at the expense of X-linked. The experiment revealed that methodological differences to a large extent might explain the considerable variation among reported genetic frequencies of retinitis pigmentosa.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Registries
  • Retinitis Pigmentosa / classification
  • Retinitis Pigmentosa / genetics*
  • X Chromosome