Article
The TCF4 Trinucleotide Repeat Expansion of Fuchs’ Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye
19 May 2023
Abstract excerpt
Purpose: In the United States, 70% of Fuchs' endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the TCF4 gene. CUG repeat RNA transcripts from this expansion accumulate as nuclear foci in the corneal endothelium. In this study, we sought to detect foci in other anterior segment cell types and assess their molecular impact. Methods: We examined CUG repeat RNA...
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