The genetics of Fuchs’ corneal dystrophy

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Fuchs endothelial corneal dystrophy: current perspectives.

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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Corneal hydration control in Fuchs' dystrophy.

Corneal hydration control was tested in 22 patients with Fuchs' dystrophy, and eight subjects of similar age without the disease, by measuring the corneal thickness recovery from swelling induced by hypoxia or following overnight sleep. Measurement precision was enhanced by using a modified optical pachometer and conducting two test procedures which were analyzed by a coupled exponential model....

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SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

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...

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Corneal 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...

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The Genetic Basis of Fuchs Endothelial Corneal Dystrophy

Fuchs endothelial corneal dystrophy (FECD) is characterized by pleomorphic, attenuated, dysfunctional, and degenerated corneal endothel ium together with progressive formation of corneal guttae. The condition may show familial clustering but is usually sporadic and predominantly affects women. Family based studies have mapped late onset FECD susceptibility to 13ptel-13q12.13 and 18q21.2-q21.32....

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ژورنال

عنوان ژورنال: Expert Review of Ophthalmology

سال: 2012

ISSN: 1746-9899,1746-9902

DOI: 10.1586/eop.12.39