Rhodopsin-mediated retinitis pigmentosa

Prog Mol Biol Transl Sci. 2009:88:1-31. doi: 10.1016/S1877-1173(09)88001-0. Epub 2009 Oct 7.


Retinitis pigmentosa (RP) is a genetically and phenotypically heterogeneous group of diseases that cause blindness. Mutations within the rhodopsin gene account for approximately 25% of autosomal dominantly inherited RP cases. Therefore, understanding the mechanisms causing rhodopsin-mediated RP has a significant health impact. To date, results from multiple labs indicate that rhodopsin-mediated RP pathogenesis does not share a common mechanism of degeneration. There is strong evidence that multiple mechanisms are involved, including protein misfolding, mislocalization, release of toxic products, and aberrant signaling. Development of effective treatments requires investigation of the mechanism involved in the different rhodopsin mutations. This chapter focuses on the mechanisms by which rhodopsin mutations cause retinal degeneration, as well as potential therapeutic strategies to treat the disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Humans
  • Retinal Cone Photoreceptor Cells / metabolism
  • Retinal Cone Photoreceptor Cells / pathology
  • Retinal Degeneration / metabolism
  • Retinal Degeneration / pathology
  • Retinal Rod Photoreceptor Cells / metabolism
  • Retinal Rod Photoreceptor Cells / pathology
  • Retinitis Pigmentosa / metabolism*
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / therapy
  • Rhodopsin / chemistry
  • Rhodopsin / metabolism*


  • Rhodopsin