Gene therapy for vision loss -- recent developments

Discov Med. 2010 Nov;10(54):425-33.

Abstract

Retinal gene therapy mediated by adeno-associated virus (AAV) based gene transfer was recently proven to improve photoreceptor function in one form of inherited retinal blinding disorder associated with mutations in the RPE65 gene. Several clinical trials are currently ongoing, and more than 30 patients have been treated to date. Even though only a very limited number of patients will greatly benefit from this still experimental treatment protocol, the technique itself has been shown to be safe and will likely be used in other retinal disorders in the near future. A canine model for achromatopsia has been treated successfully as well as mouse models for different forms of Leber congenital amaurosis (LCA). For patients with autosomal dominant retinitis pigmentosa (adRP), a combined gene knockdown and gene addition therapy is being developed using RNA interference to block mRNA of the mutant allele. For those patients suffering from RP with unknown mutations, an AAV based transfer of bacterial forms of rhodopsin in the central retina might be an option to reactivate residual cones in the future.

Publication types

  • Review

MeSH terms

  • Animals
  • Blindness / genetics
  • Blindness / therapy*
  • Carrier Proteins / genetics
  • Dependovirus / genetics
  • Eye Proteins / genetics
  • Genetic Therapy*
  • Genetic Vectors
  • Humans
  • cis-trans-Isomerases

Substances

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