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Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8623-8.

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

Author information

1
Departments of Ophthalmology, Chemistry, and Pharmacology, University of Washington, Seattle, WA 98195, USA.

Abstract

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.

PMID:
10869443
PMCID:
PMC26998
DOI:
10.1073/pnas.150236297
[Indexed for MEDLINE]
Free PMC Article

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