Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

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 …

PURPOSE: To critically evaluate our experience in molecular testing of Leber congenital
amaurosis (LCA) and to use this information to devise a general approach to heterogeneous …

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

Human retinal dystrophies have unparalleled genetic and clinical diversity and are currently
linked to more than 185 genetic loci. Genotyping is a crucial exercise, as human gene …

Leber congenital amaurosis (LCA) represents the most severe form of inherited retinal
dystrophies with an onset during the first year of life. Currently, 21 genes are known to be …

The early developing retinal neuroepithelium is composed of multipotent retinal progenitor
cells that differentiate in a time specific manner, giving rise to six major types of neuronal …

Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal blinding diseases,
such as Leber congenital amaurosis and retinitis pigmentosa. In the previous studies we …

purpose. Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) cause
severe visual impairment early in life. Thus far, mutations in 13 genes have been associated …

The mammalian apical-basal determinant Crumbs homolog-1 (CRB1) plays a crucial role in
retinal structure and function by the maintenance of adherens junctions between …