TCF4 gene expansion doesn’t influence fuchs endothelial corneal dystrophy progression

Fuchs endothelial corneal dystrophy (FECD) can progress over a 1-year period, however, the extent of triplet nucleotide repeat (TNR) expansion in the TCF4 gene does not appear to influence the rate of disease progression.

The study found that 71% of patients with FECD (n = 104) exhibited TNR expansions (>40 repeats), compared to only 13% in the control group (P < 0.001). Although initial disease severity was greater in eyes with TNR expansion (mean KG of 4.66 vs 4.08, P = 0.024), no significant correlation was observed between TNR expansion and the rate of disease progression over the year. Both the ETDRS score and the ETDRS score with glare significantly decreased over the year, but central corneal thickness and other health status scores remained stable.

Although initial disease severity was higher in patients with TNR expansion, the study found no significant relationship between TNR expansion and the speed at which FECD worsens. This suggests that other factors may drive disease progression.

Reference
Dorado-Cortez O, Crouzet E, Trone MC, et al. Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year. Cornea. 2024;doi: 10.1097/ICO.0000000000003590. Epub ahead of print. PMID: 38981099.