Gene Therapy Rescues Cone Structure and Function in the 3-Month-Oldrd12Mouse: A Model for Midcourse RPE65 Leber Congenital Amaurosis
نویسندگان
چکیده
منابع مشابه
Lentiviral Gene Transfer of Rpe65 Rescues Survival and Function of Cones in a Mouse Model of Leber Congenital Amaurosis
BACKGROUND RPE65 is specifically expressed in the retinal pigment epithelium and is essential for the recycling of 11-cis-retinal, the chromophore of rod and cone opsins. In humans, mutations in RPE65 lead to Leber congenital amaurosis or early-onset retinal dystrophy, a severe form of retinitis pigmentosa. The proof of feasibility of gene therapy for RPE65 deficiency has already been establish...
متن کاملMutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium. We examined all 14 exons of this gene in 147 unrelated patients with autosomal recessive retinitis pigmentosa (RP), in 15 patients with isolate RP, and in 45 patients with Leber congenital amaurosis (LCA). Sequence anomalies that were likely to be pathogenic were found in two patients with recessive...
متن کاملA Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis
BACKGROUND Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed to identify RPE65 gene mutations in Chinese patients with LCA. METHODS We recruited 52 sporadic patient...
متن کاملGene therapy rescues cone function in congenital achromatopsia.
The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an inherited disease of the retinal pigment epithelium has ushered in a new era of retinal therapeutics. For many retinal disorders, however, targeting of therapeutic vectors to mutant rods and/or cones will be required. In this study, the pri...
متن کاملAltered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosis.
PURPOSE Leber congenital amaurosis (LCA) is a group of childhood-onset retinal diseases characterized by severe visual impairment or blindness. One form is caused by mutations in the RPE65 gene, which encodes the retinal pigment epithelium (RPE) isomerase. In this study, the retinal structure and expression of molecular markers for different retinal cell types were characterized, and difference...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2011
ISSN: 1552-5783
DOI: 10.1167/iovs.10-6138