The role of Rds in outer segment morphogenesis and human retinal disease

Ophthalmic Genet. 2006 Dec;27(4):117-22. doi: 10.1080/13816810600976806.

Abstract

The Retinal Degeneration Slow (Rds) protein is required by photoreceptors for proper formation of the specialized outer segment organelle. Human mutations in Rds cause a multitude of blinding diseases such as retinitis pigmentosa and macular degeneration. In recent years, the use of animal models and biochemical approaches has provided evidence towards the precise function of Rds and its role in the pathogenesis of human disease. This review addresses the current understanding of the role of Rds in photoreceptor outer segment morphogenesis and provides insight into the design of therapeutic strategies to treat Rds-associated retinal diseases.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Humans
  • Intermediate Filament Proteins / physiology*
  • Membrane Glycoproteins / physiology*
  • Morphogenesis / physiology*
  • Nerve Tissue Proteins / physiology*
  • Peripherins
  • Retinal Degeneration / etiology
  • Retinal Degeneration / metabolism*
  • Retinal Degeneration / therapy
  • Rod Cell Outer Segment / growth & development*

Substances

  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH2 protein, human
  • Peripherins