Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
AUTOR(ES)
Van Hooser, J. Preston
FONTE
The National Academy of Sciences
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=26998Documentos Relacionados
- Restitution of visual function in patients with cerebral blindness.
- Retinoid requirements for recovery of sensitivity after visual-pigment bleaching in isolated photoreceptors.
- Sight Restoration after Long-term Blindness: the Problems and Behaviour Patterns of Visual Rehabilitation
- Causes of blindness and visual impairment in Pakistan. The Pakistan national blindness and visual impairment survey
- Childhood blindness in Jamaica.