DOI: 10.1073/pnas.150236297. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness [Penn]

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

10.1073/pnas.150236297

Crossref journal-article

Proceedings of the National Academy of Sciences

Proceedings of the National Academy of Sciences (341)

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.

Bibliography

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, 97(15), 8623â8628.

Authors 9

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

References 47 Referenced 178

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S G Jacobson, A V Cideciyan, Y J Huang, D B Hanna, C L Freund, L M Affatigato, R E Carr, D J Zack, E M Stone, R R McInnes Invest Ophthalmol Visual Sci 39, 2417–2426 (1998). / Invest Ophthalmol Visual Sci by Jacobson S G (1998)
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Cideciyan A. V. Haeseleer F. Fariss R. N. Aleman T. S. Jang G-F. Verlinde C. L. M. J. Marmor M. F. Jacobson S. G. & Palczewski K. (2000) Vis. Neurosci. in press.
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Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 10:32 a.m.)
Deposited	3 years, 4 months ago (April 13, 2022, 12:04 a.m.)
Indexed	1 month ago (July 30, 2025, 11:13 a.m.)
Issued	25 years, 2 months ago (June 27, 2000)
Published	25 years, 2 months ago (June 27, 2000)
Published Online	25 years, 2 months ago (June 27, 2000)
Published Print	25 years, 1 month ago (July 18, 2000)

Funders 0

None

BibTeX

@article{Van_Hooser_2000, title={Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness}, volume={97}, ISSN={1091-6490}, url={http://dx.doi.org/10.1073/pnas.150236297}, DOI={10.1073/pnas.150236297}, number={15}, journal={Proceedings of the National Academy of Sciences}, publisher={Proceedings of the National Academy of Sciences}, author={Van Hooser, J. Preston and Aleman, Tomas S. and He, Yu-Guang and Cideciyan, Artur V. and Kuksa, Vladimir and Pittler, Steven J. and Stone, Edwin M. and Jacobson, Samuel G. and Palczewski, Krzysztof}, year={2000}, month=jun, pages={8623–8628} }

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}