Gene therapy restores vision in a canine model of childhood blindness

Nat Genet. 2001 May;28(1):92-5. doi: 10.1038/ng0501-92.

Abstract

The relationship between the neurosensory photoreceptors and the adjacent retinal pigment epithelium (RPE) controls not only normal retinal function, but also the pathogenesis of hereditary retinal degenerations. The molecular bases for both primary photoreceptor and RPE diseases that cause blindness have been identified. Gene therapy has been used successfully to slow degeneration in rodent models of primary photoreceptor diseases, but efficacy of gene therapy directed at photoreceptors and RPE in a large-animal model of human disease has not been reported. Here we study one of the most clinically severe retinal degenerations, Leber congenital amaurosis (LCA). LCA causes near total blindness in infancy and can result from mutations in RPE65 (LCA, type II; MIM 180069 and 204100). A naturally occurring animal model, the RPE65-/- dog, suffers from early and severe visual impairment similar to that seen in human LCA. We used a recombinant adeno-associated virus (AAV) carrying wild-type RPE65 (AAV-RPE65) to test the efficacy of gene therapy in this model. Our results indicate that visual function was restored in this large animal model of childhood blindness.

Publication types

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

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Blindness / therapy*
  • Carrier Proteins
  • Dependovirus / genetics
  • Disease Models, Animal*
  • Dog Diseases / genetics*
  • Dogs
  • Eye Proteins / genetics*
  • Genetic Therapy / methods*
  • Optic Atrophies, Hereditary / therapy*
  • Proteins / genetics*
  • cis-trans-Isomerases

Substances

  • Carrier Proteins
  • Eye Proteins
  • Proteins
  • retinoid isomerohydrolase
  • cis-trans-Isomerases