Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
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چکیده
منابع مشابه
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Mutations in RPE65, a gene essential to normal operation of the visual (retinoid) cycle, cause the childhood blindness known as Leber congenital amaurosis (LCA). Retinal gene therapy restores vision to blind canine and murine models of LCA. Gene therapy in blind humans with LCA from RPE65 mutations may also have potential for success but only if the retinal photoreceptor layer is intact, as in ...
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Recently, patient mutations that activate PI3K signaling have been linked to a primary antibody deficiency. Here, we used whole-exome sequencing and characterized the molecular defects in 4 patients from 3 unrelated families diagnosed with hypogammaglobulinemia and recurrent infections. We identified 2 different heterozygous splice site mutations that affect the same splice site in PIK3R1, whic...
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AIMS To characterise the disease in patients with mutations in RPE65. METHODS Individuals from two families were studied clinically. RESULTS 13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygot...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2005
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.0500646102