Restoration of cone vision in a mouse model of achromatopsia

Nat Med. 2007 Jun;13(6):685-7. doi: 10.1038/nm1596. Epub 2007 May 21.


Loss of cone function in the central retina is a pivotal event in the development of severe vision impairment for many prevalent blinding diseases. Complete achromatopsia is a genetic defect resulting in cone vision loss in 1 in 30,000 individuals. Using adeno-associated virus (AAV) gene therapy, we show that it is possible to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia.

Publication types

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

MeSH terms

  • Animals
  • Color Vision Defects / genetics
  • Color Vision Defects / therapy*
  • Disease Models, Animal*
  • Eye Proteins / genetics
  • Eye Proteins / metabolism
  • Genetic Therapy*
  • Heterotrimeric GTP-Binding Proteins / genetics
  • Heterotrimeric GTP-Binding Proteins / metabolism
  • Mice
  • Mice, Transgenic
  • Retinal Cone Photoreceptor Cells / physiology*


  • Eye Proteins
  • Gnat2 protein, mouse
  • Heterotrimeric GTP-Binding Proteins