Fucose is a 6-deoxy hexose in the l-configuration found in a large variety of different
organisms. In mammals, fucose is incorporated into N-glycans, O-glycans and glycolipids by …

Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal
dystrophies, ranging from leber congenital amaurosis (LCA) to rod–cone dystrophy, also …

Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of
childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind of …

Objectives Current technologies for delivering gene testing are labour-intensive and
expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next …

Purpose To describe the phenotype, long-term clinical course, clinical variability, and
genotype of patients with CRB1-associated retinal dystrophies. Design Retrospective cohort …

PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …

Light deprivation has long been considered a potential treatment for patients with inherited
retinal degenerative diseases, but no therapeutic benefit has been demonstrated to date. In …

Objectives To identify CRB1 mutations in a large cohort of patients with recessive retinal
dystrophies and to document the retinal phenotype and visual prognosis. Design A hospital …

Purpose.: To investigate the human disease due to CRB1 mutations and compare results
with the Crb1-mutant rd8 mouse. Methods.: Twenty-two patients with CRB1 mutations were …

Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal diseases
including Leber's congenital amaurosis (LCA) and retinitis pigmentosa type 12. The CRB1 …