Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR
- William A. Beltran1,
- Artur V. Cideciyan2,
- Alfred S. Lewin3,
- William W. Hauswirth4,
- Samuel G. Jacobson2 and
- Gustavo D. Aguirre1
- 1Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104
- 2Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104
- 3Department of Molecular Genetics & Microbiology, University of Florida, Gainesville, Florida 32610
- 4Department of Ophthalmology, University of Florida, Gainesville, Florida 32610
- Correspondence: wbeltran{at}vet.upenn.edu
Abstract
X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration, and no treatment is currently available. Recent evidence in two clinically relevant canine models shows that adeno-associated viral (AAV)-mediated RPGR gene transfer to rods and cones can prevent disease onset and rescue photoreceptors at early- and mid-stages of degeneration. There is thus a strong incentive for conducting long-term, preclinical efficacy and safety studies, while concomitantly pursuing the detailed phenotypic characterization of XLRP disease in patients that may benefit from such corrective therapy.
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