Mitochondrial Polymorphism A10398G and Haplogroup I Are Associated With Fuchs' Endothelial Corneal Dystrophy
نویسندگان
چکیده
منابع مشابه
Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.
PURPOSE We investigated whether mitochondrial DNA (mtDNA) variants affect the susceptibility of Fuchs endothelial corneal dystrophy (FECD). METHODS Ten mtDNA variants defining European haplogroups were genotyped in a discovery dataset consisting of 530 cases and 498 controls of European descent from the Duke FECD cohort. Association tests for mtDNA markers and haplogroups were performed using...
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Fuchs endothelial corneal dystrophy (FECD) is the most common corneal dystrophy and frequently results in vision loss. Hallmarks of the disease include loss of corneal endothelial cells and formation of excrescences of Descemet's membrane. Later stages involve all layers of the cornea. Impairment of endothelial barrier and pump function and cell death from oxidative and unfolded protein stress ...
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The endothelial (posterior) corneal dystrophies, which result from primary endothelial dysfunction, include Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD) and congenital hereditary endothelial dystrophy (CHED). Mutations in SLC4A11 gene have been recently identified in patients with recessive CHED (CHED2). In this study, we show that heterozygous mut...
متن کاملCorneal Hydration Control in Fuchs' Endothelial Corneal Dystrophy
Purpose To assess corneal hydration control across a range of severity of Fuchs' endothelial corneal dystrophy (FECD) by measuring the percent recovery per hour (PRPH) of central corneal thickness after swelling the cornea and to determine its association with corneal morphologic parameters. Methods Twenty-three corneas of 23 phakic FECD patients and 8 corneas of 8 healthy control participant...
متن کاملCorneal endothelial cell apoptosis in patients with Fuchs' dystrophy.
PURPOSE To investigate whether apoptosis plays a notable role in degeneration of corneal endothelial cells in patients with Fuchs' dystrophy. METHODS Forty-seven corneal buttons from 41 patients with Fuchs' dystrophy were studied. Nucleus labeling, transmission electron microscopy (TEM), and TdT-dUTP terminal nick-end labeling (TUNEL) were used to detect apoptosis. TEM and TUNEL were performe...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2014
ISSN: 1552-5783
DOI: 10.1167/iovs.13-13517