The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders

Annu Rev Neurosci. 2010:33:441-72. doi: 10.1146/annurev-neuro-060909-153227.

Abstract

The association of more than 140 genes with human photoreceptor degenerations, together with studies of animal models of these monogenic diseases, has provided great insight into their pathogenesis. Here we review the responses of the retina to photoreceptor mutations, including mechanisms of photoreceptor death. We discuss the roles of oxidative metabolism, mitochondrial reactive oxygen species, metabolic stress, protein misfolding, and defects in ciliary proteins, as well as the responses of Müller glia, microglia, and the retinal vasculature. Finally, we report on potential pharmacologic and biologic therapies, the critical role of histopathology as a prerequisite to treatment, and the exciting promise of gene therapy in animal models and in phase 1 trials in humans.

Publication types

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

MeSH terms

  • Animals
  • Disease Models, Animal
  • Genetic Predisposition to Disease / genetics*
  • Genetic Therapy / methods
  • Genetic Therapy / trends
  • Genomics / methods
  • Genomics / trends
  • Humans
  • Nerve Degeneration / genetics*
  • Nerve Degeneration / metabolism*
  • Nerve Degeneration / pathology
  • Photoreceptor Cells, Vertebrate / chemistry
  • Photoreceptor Cells, Vertebrate / metabolism*
  • Photoreceptor Cells, Vertebrate / pathology
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / metabolism*
  • Retinal Degeneration / pathology
  • Retinal Degeneration / therapy