[Retinitis pigmentosa. Clinical findings, results of molecular genetic techniques and research perspectives]

Ophthalmologe. 1992 Feb;89(1):5-21.
[Article in German]

Abstract

In recent years, research efforts in the basic and clinical sciences have yielded numerous new findings. The review given here outlines clinical findings, research results, and perspectives on the origin of hereditary retinal degeneration as far as molecular genetics, biochemistry, morphology, and clinical research are concerned: genotype-phenotype correlation, electroretinography, color perimetry, blue cone function, exogenous factors, refraction problems, fat metabolism, immunological aspects, retinal transplantation, and phenocopies of retinitis pigmentosa and related syndromes. The consequences for ophthalmological practice are pointed out and comprehensive, improved diagnostic procedures are recommended, using a checklist proposed here (see appendix).

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adult
  • Genes, Dominant / genetics
  • Genes, Recessive / genetics
  • Genetic Counseling
  • Genotype*
  • Humans
  • Mutation / genetics
  • Phenotype*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics

Substances

  • Rhodopsin