نتایج جستجو برای: fuchs endothelial dystrophy
تعداد نتایج: 155710 فیلتر نتایج به سال:
PURPOSE Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs' endothelial corneal dystrophy (FECD6; MIM #613270). Although PPCD and keratoconus are clinically and pathologically distinct, PPCD has been associated with keratoconus, suggesting a common genetic basis. The purpose of our study was to perform mutational screening of the ZEB1...
Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals. An FECD subject-derived corneal endothelial cel...
PURPOSE Fuchs' endothelial corneal dystrophy (FECD), which affects approximately 5% of the population over 40 in the U.S.A., is a major cause of corneal transplantation. FECD is associated with mutations of a variety of unrelated genes: SLC4A11, COL8A2, TCF8, and LOXHD1. The current pathological description of the dystrophy includes deficiency of corneal endothelium (CE) pump function and induc...
treated with gas tamponade and postural positioning. The detachment resolved, and her visual acuity improved to 20/40 OS. Preoperatively, the biomicroscopic examination of the left eye revealed the subjective appearance of an irregular endothelial surface similar to, but more coarse than, the beaten-metal appearance of the endothelium in iridocorneal endothelial syndrome (Figure). In comparison...
Fuchs' endothelial corneal dystrophy is a socially significant hereditary disease. More than half of cases in the European population are caused by increased number trinucleotude repeats TCF4 gene. The study was aimed to develop and test approach dividing patients into groups based on chip-based genotyping genome-wide association (GWAS) results. analysis conducted using FECD Genetics Multi-cent...
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