Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

Academic Article


  • Mutations in the retinal pigment epithelium gene encoding RPE65 are a cause of the incurable early-onset recessive human retinal degenerations known as Leber congenital amaurosis. Rpe65-deficient mice, a model of Leber congenital amaurosis, have no rod photopigment and severely impaired rod physiology. We analyzed retinoid flow in this model and then intervened by using oral 9-cis-retinal, attempting to bypass the biochemical block caused by the genetic abnormality. Within 48 h, there was formation of rod photopigment and dramatic improvement in rod physiology, thus demonstrating that mechanism-based pharmacological intervention has the potential to restore vision in otherwise incurable genetic retinal degenerations.
  • Authors

    Digital Object Identifier (doi)

    Author List

  • Van Hooser JP; Aleman TS; He YG; Cideciyan AV; Kuksa V; Pittler SJ; Stone EM; Jacobson SG; Palczewski K
  • Start Page

  • 8623
  • End Page

  • 8628
  • Volume

  • 97
  • Issue

  • 15