Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
نویسندگان
چکیده
منابع مشابه
Leber 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 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...
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 کاملLeber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
PURPOSE To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin (LCA5) mutation. METHODS Two young unrelated LCA patients, ages six years (P1) and 25 years (P2) at last visit, both with the same homozygous mutation in the LCA5 gene, were evaluated clinically and with noninvasive studies. En face imaging was performed with near-infr...
متن کاملNovel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
PURPOSE The gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies. METHODS DNA samples of 161 pat...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2020
ISSN: 1552-5783
DOI: 10.1167/iovs.61.5.30