Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

Albert M. Maguire, Francesca Simonelli, Eric A. Pierce et al. · New England Journal of Medicine · 2008 · 2.1K citations · Full text

Medicine, Genetics, Ophthalmology +17

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

James Bainbridge, Alexander J. Smith, Susie S. Barker et al. · New England Journal of Medicine · 2008 · 1.9K citations · Full text

Medicine, Genetics, Ophthalmology +15

Treatment of Leber Congenital Amaurosis Due to <i>RPE65</i> Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

William W. Hauswirth, Tomás S. Alemán, Shalesh Kaushal et al. · Human Gene Therapy · 2008 · 947 citations · Full text

Medicine, Molecular Biology, Ophthalmology +15

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle

T. Michael Redmond, Shirley Yu, Eric Lee et al. · Nature Genetics · 1998 · 930 citations

Medicine, Ophthalmology, Vision Science +10

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Artur V. Cideciyan, Tomás S. Alemán, Sanford L. Boye et al. · Proceedings of the National Academy of Sciences · 2008 · 664 citations · Full text

Medicine, Genetics, Ophthalmology +17