نتایج جستجو برای: lebers congenital amaurosis
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We report the case of a 66-year-old man with Takayasu arteritis who developed photic and postprandial amaurosis occurring at a corticosteroid dose <40 mg per day, despite concurrent methotrexate. The amaurosis resolved with correction of anemia by packed red blood cell transfusion. Marginal retinal perfusion in Takayasu arteritis may precipitate symptomatic hypoxia as a result of eating a meal ...
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred
Mutation of the polarity gene Crumbs homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by early-onset degenerative retinal dystrophy. The role of CRB1 in LCA8 pathogenesis remains elusive since Crb1 mouse mutants, including a null allele, have failed to mimic the early-onset of LCA, most likely due to functional compensation by cl...
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