Purpose To introduce the first Hungarian patients with genetically defined Leber congenital
amaurosis (LCA) and to report 2 novel mutations. Methods Seven otherwise healthy patients …

Purpose: To describe the prevalence of mutations in LCA-associated genes in a large
German cohort, and to give detailed clinical information about their phenotype. Methods …

purpose. To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of
Italian patients and to perform genotype–phenotype analysis. methods. DNA samples from …

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal
dystrophies, responsible for congenital blindness. Disease-associated mutations have been …

Background: Leber congenital amaurosis (LCA) is most often an autosomal recessive
disorder. We report a father and son with autosomal dominant LCA due to a mutation in the …

Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most
frequent cause of congenital blindness in children and the most severe form of inherited …

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies
and the most frequent cause of congenital blindness in children. To date, 25 genes have …

Purpose To study the genotype-phenotype characteristics of Leber congenital amaurosis
(LCA) in the Chinese eastern coast Han population. Methods Children with strictly defined …

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal
dystrophies, responsible for congenital blindness. Disease‐associated mutations have been …

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