DNA damage and repair in Fuchs endothelial corneal dystrophy

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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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Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy

BACKGROUND Fuchs endothelial corneal dystrophy (FECD) is a corneal disease characterized by abnormalities in the Descemet membrane and the corneal endothelium. The etiology of this disease is poorly understood. An increased level of oxidative DNA damage reported in FECD corneas suggests a role of DNA base excision repair (BER) genes in its pathogenesis. In this work, we searched for the associa...

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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' 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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Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients.

We read with great interest the article by Mootha et al. concerning a possible correlation between Fuchs’ endothelial corneal dystrophy (FECD) and myotonic dystrophy (MD). We thank the authors because, among the studies we made trying to understand the reason of low intraocular pressure in patients with MD, they cited one study we published in 2010 where we examined the endothelial cells charac...

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ژورنال

عنوان ژورنال: Molecular Biology Reports

سال: 2012

ISSN: 0301-4851,1573-4978

DOI: 10.1007/s11033-012-2369-2