Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.

ABSTRACT:

Purpose

RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK) genes has been described in Fuchs' endothelial corneal dystrophy (FECD) and myotonic dystrophy, type 1 (DM1), respectively. We prospectively evaluated DM1 patients and their families for phenotypic FECD and report the analysis of CTG expansion in the TCF4 gene and DMPK expression in corneal endothelium.

Methods

FECD grade was evaluated by slit lamp biomicroscopy in 26 participants from 14 families with DM1. CTG TNR length in TCF4 and DMPK was determined by a combination of Gene Scan and Southern blotting of peripheral blood leukocyte DNA.

Results

FECD grade was 2 or higher in 5 (36%) of 14 probands, significantly gr

SUBMITTER: Winkler NS 

PROVIDER: S-EPMC6005624 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature