Progession of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

CLINICAL SCIENCE Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus

Background: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocu...

Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

BACKGROUND Leber's congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocul...

Identification 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 ...

Identification 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...