Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for Fuchs’ Endothelial Corneal Dystrophy

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Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.

PURPOSE To analyze the expansion of CTG18.1 allele associated with Fuchs' corneal dystrophy (FCD) in our large cohort of late-onset FCD cases. METHODS CTG repeats within the CTG18.1 allele were estimated by short tandem repeat (STR) and triplet primed PCR (TP-PCR) assays in our large cohort of 574 late-onset FCD cases and 354 controls and large multigeneration familial cases. The age versus s...

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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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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 Backscatters as an Objective Index for Assessing Fuchs' Endothelial Corneal Dystrophy: A Pilot Study

PURPOSE To provide an objective, quantitative approach for monitoring Fuchs' endothelial corneal dystrophy (FECD), with Scheimpflug imaging. DESIGN This is a retrospective case-control pilot study. METHODS The study group consisted of 53 eyes in 27 patients diagnosed with FECD, with normal subjects paired as control. Main outcome measures were corneal thickness, morphological patterns on de...

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Corneal Hydration Control in Fuchs' Endothelial Corneal Dystrophy

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ژورنال

عنوان ژورنال: Translational Vision Science & Technology

سال: 2020

ISSN: 2164-2591

DOI: 10.1167/tvst.9.9.47