Novel mutation identified in Leber congenital amaurosis - a case report
نویسندگان
چکیده
منابع مشابه
Novel NMNAT1 mutations causing Leber congenital amaurosis identified.
1. Weleber RG, Francis PJ, Trzupek KM. Leber ongenital amaurosis 2004 [Updated 2010]. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviewsTM [Internet] (WA): University of Washington, 1993, from: http://www.ncbi.nlm.nih.gov/books/NBK1298/ 2. Bainbridge JW, Smith AJ, Barker SS et al. Effect of gene therapy on visual function in Leber’s congenital amaurosis. N Engl J Med 2008: 358 (21): 2231...
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 کاملIdentification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
PURPOSE To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. METHODS The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family. RESULTS Congenitally severely ...
متن کاملCRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic varia...
متن کاملIdentification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
PURPOSE Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations in 13 known genes and at two other loci have been implicated in LCA causation. An examination of the known genes highlights several processes which, when defective, cause LCA, including photoreceptor development and maintenance, phototransduction, vitamin A metabolism...
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ژورنال
عنوان ژورنال: BMC Ophthalmology
سال: 2020
ISSN: 1471-2415
DOI: 10.1186/s12886-020-01577-9