Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
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 کاملRetinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
PURPOSE To report the phenotype and characterization of a new, naturally occurring mouse model of hereditary retinal degeneration (rd12). METHODS The retinal phenotype of rd12 mice were studied using serial indirect ophthalmoscopy, fundus photography, electroretinography (ERG), genetic analysis including linkage studies and gene identification, immunohistochemistry, and biochemical analysis. ...
متن کاملEvidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
Originally described by Theodore Leber in 1869, Leber congenital amaurosis (LCA, MIM 204000) is the most early and severe form of all hereditary retinal dystrophies, responsible for congenital blindness. The diagnosis is usually made at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus, and unrecordable electroretinogram (ERG). ...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2019
ISSN: 1552-5783
DOI: 10.1167/iovs.19-26672