نتایج جستجو برای: fuchs endothelial dystrophy

تعداد نتایج: 155710  

Journal: :Investigative ophthalmology & visual science 2013
Judith Lechner Durga P Dash Dorota Muszynska Mohsen Hosseini Fani Segev Sonia George David G Frazer Jonathan E Moore Stephen B Kaye Terri Young David A Simpson Amanda J Churchill Elise Héon Colin E Willoughby

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...

Journal: :American journal of human genetics 2018
Christina Zarouchlioti Beatriz Sanchez-Pintado Nathaniel J Hafford Tear Pontus Klein Petra Liskova Kalyan Dulla Ma'ayan Semo Anthony A Vugler Kirithika Muthusamy Lubica Dudakova Hannah J Levis Pavlina Skalicka Pirro Hysi Michael E Cheetham Stephen J Tuft Peter Adamson Alison J Hardcastle Alice E Davidson

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...

2014
Supriya S. Jalimarada Diego G. Ogando Joseph A. Bonanno

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...

Journal: :Ophthalmology Journal 2017

Journal: :Archives of ophthalmology 2003
Rahul T Pandit Ayad A Farjo John E Sutphin

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...

Journal: :Bulletin of Russian State Medical University 2023

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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