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

J. Preston Van Hooser, Tomas S. Aleman, Yu Guang He, Artur V. Cideciyan, Vladimir Kuksa, Steven J. Pittler, Edwin M. Stone, Samuel G. Jacobson, Krzysztof Palczewski

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209 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)8623-8628
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume97
Issue number15
DOIs
StatePublished - Jul 18 2000

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    Van Hooser, J. P., Aleman, T. S., He, Y. G., Cideciyan, A. V., Kuksa, V., Pittler, S. J., Stone, E. M., Jacobson, S. G., & Palczewski, K. (2000). Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proceedings of the National Academy of Sciences of the United States of America, 97(15), 8623-8628. https://doi.org/10.1073/pnas.150236297