Longitudinal Study of <i>TCF4</i> CTG Trinucleotide Repeat Length and Disease Severity in Fuchs' Endothelial Corneal Dystrophy.

ABSTRACT: Objective: This was a longitudinal study of TCF4 CTG18.1 trinucleotide repeat lengths in 17 patients (27 eyes) diagnosed with Fuchs' endothelial corneal dystrophy (FECD), and it aimed to correlate the repeat expansion status with disease severity and progression. Design: This was a prospective cohort study looking at FECD clinical progression and TCF4 CTG18.1 repeat length expansion status over time. Methods: A total of 27 eyes from 17 patients diagnosed with FECD were recruited. Only eyes with FECD disease severity of at least Grade 4 on the modified Krachmer clinical grading scale were included; eyes that had previously undergone any form of ocular surgery prior to the first genotyping or during the duration of follow-up were excluded. CTG trinucleotide

SUBMITTER: Teo JXJ 

PROVIDER: S-EPMC12821436 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature