purpose. To test human CRB1 heterozygotes for possible clinical or functional retinal
changes and to evaluate whether a patient with Leber congenital amaurosis (LCA) with …

Objectives To test the hypothesis that mutations in theCRB1gene cause Leber congenital
amaurosis (LCA) and, if so, to describe the ocular phenotype of patients with LCA who …

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
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Purpose: To identify the genetic basis of recessive inheritance of high hyperopia and Leber
congenital amaurosis (LCA) in a family of Middle Eastern origin. Materials and methods: The …

purpose. To present an association of mutations in the CRB1 gene with keratoconus in
patients with Leber congenital amaurosis (LCA). methods. Sixteen patients with genotyped …

CRX is a transcription factor required for activating the expression of many photoreceptor-
neuron genes. CRX may be mutated in three forms of human blindness; Leber congenital …

Purpose: In order to determine genotype-phenotype correlations in Leber congenital
amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. We …

Purpose: To screen for possible disease-causing mutations in the CRX gene in Chinese
patients with Leber congenital amaurosis (LCA) and to enrich the understanding of its …

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 …

Objective To report a new phenotype caused by mutations in the CRB1 gene in a family with
2 affected siblings. Design Molecular genetics and observational case studies. Participants …