Research progress and prospects in molecular mechanisms of Leber congenital amaurosis

Molecular 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...

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...

Mechanisms of RDH12-Induced Leber Congenital Amaurosis and Therapeutic Approaches

Molecular characterization of Leber congenital amaurosis in Koreans

PURPOSE Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy, and invariably leads to blindness. LCA is a genetically and clinically heterogenous disorder. Although more than nine genes have been found to be associated with LCA, they only account for about half of LCA cases. We performed a comprehensive mutational analysis on nine known genes in 20 unrelated p...

Disc 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...