Gene mutations in retinitis pigmentosa and their clinical implications

Clin Chim Acta. 2005 Jan;351(1-2):5-16. doi: 10.1016/j.cccn.2004.08.004.


Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases affecting about 1 in 3500 people worldwide. So far, there is no prevention or cure, with permanent visual loss or even blindness the ultimate consequence usually after midlife. The genetics of RP are complex. It can be sporadic, autosomal dominant, autosomal recessive, or X-linked. Thirty-two genes are known to be associated with RP, sometimes the same gene gets involved in different inheritance traits. Some RP cases have a digenic cause. About 60% RP cases still have no known genetic cause. A large number of mutations cause RP, and they can be deletions, insertions, or substitutions that cause missense mutations or truncations. The RHO, RP1, and RPGR genes contribute the greatest number of known mutations causative of RP. But there is no single mutation that alone accounts for more than 10% of unrelated patients. Genetic testing for RP therefore requires screening for a group of genes. High-throughput and automated sequence detection technologies are essential. Due to the complexity in phenotype and genetics, and the fact that RP is untreatable, genetic testing for presymptomatic diagnosis of RP is controversial. Meanwhile, new genes are still to be identified, mostly by family linkage and sib-pair analysis. Research on gene therapy for RP requires information on gene mutations causative of RP.

Publication types

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

MeSH terms

  • Eye Proteins / genetics
  • Genetic Therapy
  • Humans
  • Mutation / physiology*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / therapy*
  • rho GTP-Binding Proteins / genetics


  • Eye Proteins
  • RP1 protein, human
  • RPGR protein, human
  • rho GTP-Binding Proteins