Mutation Analysis of 3 Genes in Patients With Leber Congenital Amaurosis
نویسندگان
چکیده
منابع مشابه
Mutation 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 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 کاملAnalysis of three genes in Leber congenital amaurosis in Indonesian patients
PURPOSE To assess the frequency, the pattern of disease causing mutations, and phenotypic variations in patients with Leber congenital amaurosis (LCA) from Indonesia. PATIENTS AND METHODS Twenty-one unrelated index cases with a clinical diagnosis of LCA were screened for mutations in the coding sequence of RetGC1, RPE65 and AIPL1 gene with single strand conformation polymorphism analysis foll...
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 کاملDetection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
BACKGROUND Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far, full spectrum of variations in the 15 genes known to cause LCA has not been systemically evaluated in East Asians. Therefore, we performed comprehensive detection of variants in these 15 genes in 87 unrelated Han Chinese patients with LCA. METHODOLOGY/PRINCIPAL FINDI...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2000
ISSN: 0003-9950
DOI: 10.1001/archopht.118.4.538