title: Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.
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.
authors.affiliation: Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
authors.forename: William A
authors.initials: WA
authors.lastname: Beltran
authors.affiliation: Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104.
authors.forename: Artur V
authors.initials: AV
authors.lastname: Cideciyan
authors.affiliation: Department of Molecular Genetics & Microbiology, University of Florida, Gainesville, Florida 32610.
authors.forename: Alfred S
authors.initials: AS
authors.lastname: Lewin
authors.affiliation: Department of Ophthalmology, University of Florida, Gainesville, Florida 32610.
authors.forename: William W
authors.initials: WW
authors.lastname: Hauswirth
authors.affiliation: Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104.
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
authors.affiliation: Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
authors.forename: Gustavo D
authors.initials: GD
authors.lastname: Aguirre
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D004195:Disease Models, Animal; D004285:Dogs; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000628:therapy; D008040:Genetic Linkage; D015316:Genetic Therapy; D006801:Humans; D008297:Male; D051379:Mice; D009154:Mutation; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; C099929:RPGR protein, human; C513598:RPGR protein, mouse