Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

Trends Mol Med. 2005 Apr;11(4):177-85. doi: 10.1016/j.molmed.2005.02.007.


Retinitis pigmentosa (RP) is a group of retinal degenerative diseases that are characterised primarily by the loss of rod photoreceptor cells. Mutations in rhodopsin are the most common cause of autosomal-dominant RP (ADRP). Here, we propose a new classification for rhodopsin mutations based on their biochemical and cellular properties. Several different potential gain-of-function mechanisms for rhodopsin ADRP are described and discussed. Possible dominant-negative mechanisms, which affect the processing, translocation or degradation of wild-type rhodopsin, are also considered. Understanding the molecular and cellular consequences of rod-opsin mutations and the underlying disease mechanisms in ADRP are essential to develop future therapies for this class of retinal dystrophies.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Cell Death / physiology*
  • Humans
  • Models, Neurological
  • Molecular Sequence Data
  • Mutation
  • Protein Conformation
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / chemistry
  • Rhodopsin / genetics*


  • Rhodopsin