نتایج جستجو برای: lebers congenital amaurosis
تعداد نتایج: 120868 فیلتر نتایج به سال:
Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies. Here we report the first mapping of a gene for LCA to the distal short arm of chromosome 17 by linkage analysis in 15 multiplex families (Zmax = 5.14 at theta = 0.15 for ...
Purpose To examine how severe congenital blindness resulting from mutations of the GUCY2D gene alters brain structure and function, and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA). Methods Six GUCY2D-LCA patients (ages 20-46) were studied with optical coherence tomography of the retina and multimodal magnetic re...
in this issue of irjo movassat et al1 (p: 33-38) present a case series of leber's congenital amaurosis (lca). lca is the most severe form of inherited retinal dystrophy responsible for congenital blindness with an early age of onset and accounts for at least 5% of all inherited retinal diseases which affect about one in 3500 individuals in the world. usually degenerative anomalies of the r...
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