[Genetic heterogeneity of retinitis pigmentosa]

Klin Oczna. 1994 Jan;96(1):24-9.
[Article in Polish]

Abstract

The authors present a classification of retinitis pigmentosa (rp) based on the modes of inheritance. Known genetic conditions of autosomal recessive, X-linked recessive and autosomal dominant forms of rp are shown, presenting molecular principles of the illness. They also describe clinical subtypes of rp with suggested genotype-phenotype correlations and principles of modern genetic diagnostics and genetic counselling.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Female
  • Gene Expression
  • Genes, Recessive
  • Genetic Counseling
  • Genotype
  • Humans
  • Male
  • Phenotype
  • Retinitis Pigmentosa / genetics*