The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease

Semin Ophthalmol. Oct-Dec 2007;22(4):211-7. doi: 10.1080/08820530701745124.


The Wnt signaling pathway is highly conserved among species and has an important role in many cell biological processes throughout the body. This signaling cascade is involved in regulating ocular growth and development, and recent findings indicate that this is particularly true in the retina. Mutations involving different aspects of the Wnt signaling pathway are being linked to several diseases of retinal development. The aim of this article is to first review the Wnt signaling pathway. We will then describe two conditions, familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND), which have been shown to be caused in part by defects in the Wnt signaling cascade.

Publication types

  • Review

MeSH terms

  • Cataract / genetics*
  • Deafness / genetics*
  • Exudates and Transudates
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Retinal Diseases / genetics*
  • Signal Transduction*
  • Vitreoretinopathy, Proliferative / genetics*
  • Wnt Proteins / physiology*


  • Wnt Proteins