[Genetics of retinal dystrophies--an overview]

Ophthalmologe. 2005 Jul;102(7):661-73. doi: 10.1007/s00347-005-1185-7.
[Article in German]

Abstract

Vision requires complex retinal functions, involving multiple genes with different functions. Retinal degeneration results from disturbance of retina-specific processes such as the visual transduction cascade, but also from defects in basic functions such as pre-mRNA splicing and nucleotide synthesis. As a consequence, the retinal dystrophies are genetically extremely heterogeneous (as shown in the table). Thanks to the Human Genome Project, the identification of retinal disease genes and additional loci has skyrocketed. Today, a typical search for the causative gene in a disease-linked genomic interval starts at the computer. Genes from a particular region can be displayed, and multiple gene-specific data such as expression patterns are immediately accessible. Candidate genes can then be investigated in DNA from affected individuals.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Biomarkers / metabolism
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism*
  • Gene Expression Profiling / methods*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / metabolism*
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism*

Substances

  • Biomarkers
  • Eye Proteins
  • Transcription Factors