Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis
نویسندگان
چکیده
منابع مشابه
Novel 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 کاملSevere Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis
Purpose RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration. We aim to provide detailed information about how cone dysfunction affects color discrimination. Methods Seven adults (aged 16-21) with RPE65-LCA underwent monocular color discrim...
متن کاملLeber congenital amaurosis
Key words Disease name /synonyms Definition / Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Prenatal diagnosis Management including treatment Unresolved questions References Abstract Leber congenital amaurosis (LCA) is a retinal dystrophy and/or dysplasia of prenatal onset. About 10 to 20% of blind children are though...
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 کاملDifferential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
PURPOSE To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). METHODS SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software wa...
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ژورنال
عنوان ژورنال: Journal of Biochemistry
سال: 2015
ISSN: 0021-924X,1756-2651
DOI: 10.1093/jb/mvv028