Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis
نویسندگان
چکیده
منابع مشابه
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
PURPOSE To test the efficiency of a microarray chip as a diagnostic tool in a cohort of northwestern European patients with Leber congenital amaurosis (LCA) and to perform a genotype-phenotype analysis in patients in whom pathologic mutations were identified. METHODS DNAs from 58 patients with LCA were analyzed using a microarray chip containing previously identified disease-associated sequen...
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 کاملFundus autofluorescence in patients with leber congenital amaurosis.
PURPOSE Fundus autofluorescence (FAF), as an index of lipofuscin accumulation in the retinal pigment epithelium (RPE), provides indirect information on the level of metabolic activity of the RPE and thus the integrity of the RPE/photoreceptor complex. To investigate whether the photoreceptor/RPE complex is still viable in patients with Leber congenital amaurosis (LCA), FAF imaging was performed...
متن کاملMutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.
The genetic defects underlying approximately half of all retinitis pigmentosa (RP) cases are unknown. A number of genes responsible for Leber congenital amaurosis (LCA) may also cause RP when they are mutated. Our previous study revealed that variants in the most frequently mutated nine exons accounted for approximately half of the mutations detected in a cohort of patients with LCA. The aim of...
متن کاملGenotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
PURPOSE Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth. Variants in at least six genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1) have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa (RP). Genetically heterogeneous inheritance complicates the analy...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2006
ISSN: 1552-5783
DOI: 10.1167/iovs.05-0848