Genetic testing for 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 کاملMolecular genetics of Leber congenital amaurosis.
Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients. These genes are expressed preferentially in the retina or the retinal pigment epithelium. Their putative functions are quite di...
متن کاملDisc oedema in congenital amaurosis of Leber.
Since it was first described by Theodor Leber as 'pigmentary retinitis with congenital amaurosis' (Leber, I867), the entity which bears his name has been the subject of sporadic reports defining its clinical and pathological characteristics. It accounted for about io per cent of the blindness in Sweden (Alstrom and Olsen, 1957) and i8 per cent among children in a series in Holland (SchappertKim...
متن کاملGenotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
OBJECTIVES To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype. METHODS DNA from 14 families was analyzed using single-nucleotide polymorphism and microsatellite genotyping and direct sequencing to determine the genes and mutations involved. The history and examination findings from 64 affected individuals were analyzed to show ge...
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: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.20