Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
نویسندگان
چکیده
منابع مشابه
Leber congenital amaurosis caused by mutations in RPGRIP1.
Recessive null mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene are the cause of LCA6 and account for 5% to 6% of the total patient population. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. As a result, patients lose retinal functions at an ea...
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 کاملNovel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
PURPOSE Retinal pigment epithelium-specific protein 65 kDa (RPE65) plays an essential role in vitamin A metabolism necessary for synthesizing the visual pigment 11-cis-retinal chromophore. Mutations in RPE65 cause the childhood blindness disorder known as Leber congenital amaurosis (LCA), as well as autosomal recessive retinitis pigmentosa (RP). The purpose of this study was to identify RPE65 m...
متن کاملResults at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.
PURPOSE To provide an initial assessment of the safety of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in adults and children with retinal degeneration caused by RPE65 mutations. DESIGN Nonrandomized, multicenter clinical trial. PARTICIPANTS Eight adults and 4 children, 6 to 39 years of age, with Leber congenital amaurosis (LCA) or severe early-childhood-on...
متن کاملAntisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal degeneration, with an onset in the first year of life. The most frequent mutation that causes LCA, present in at least 10% of individuals with LCA from North-American and Northern-European descent, is an intronic mutation in CEP290 that results in the inclusion of an aberrant exon in the CEP290 mRNA. Here, we describe...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2012
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2011.298