Prospects for retinal gene replacement therapy

Trends Genet. 2009 Apr;25(4):156-65. doi: 10.1016/j.tig.2009.02.003. Epub 2009 Mar 18.


Inherited retinal degeneration, which includes conditions such as retinitis pigmentosa and Leber congenital amaurosis (LCA), affects approximately 1/3000 of the population in the Western world. It is characterized by loss of vision and results from mutations in any one of >100 different genes. There are currently no effective treatments, but many of the genes have now been identified and their functions elucidated, providing a major impetus to develop gene-based treatments. Preliminary results from three clinical trials indicate that the treatment of a form of LCA by gene therapy can be safe and effective. Here, we discuss the potential for treating other forms of retinal degeneration by gene therapy, focusing on the gene defects that are likely to be the most amenable to treatment.

Publication types

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

MeSH terms

  • Animals
  • Clinical Trials as Topic
  • Disease Models, Animal
  • Gene Transfer Techniques
  • Genes, Recessive
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Humans
  • Light Signal Transduction
  • Models, Biological
  • Models, Genetic
  • Mutation
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / therapy
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / therapy*
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / therapy