Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease in Fuchs Endothelial Corneal Dystrophy

What this Trial Is About

Researchers are investigating Fuchs Endothelial Corneal Dystrophy (FECD), a genetic eye disease affecting the cornea, through a long-term observational study in the United Kingdom. This research aims to study younger individuals who have a genetic risk of developing FECD by monitoring their eye changes over several years. The goal is to understand the genetic causes of FECD and how these relate to changes in the eye, ultimately helping to develop personalized care for patients. Participants are divided into two groups: those with a family history of FECD and a specific genetic expansion (CTG18.1 repeat of 50 or more) or early-stage FECD without obvious corneal swelling, and controls with no family history or genetic risk. The study uses advanced eye imaging techniques and genetic testing on blood or saliva samples to track subtle changes in the cornea and genetic markers related to FECD. Follow-up visits allow researchers to observe disease progression over time. During the study, participants will undergo detailed eye exams including visual acuity tests, contrast sensitivity, slit-lamp photography, specular microscopy, Scheimpflug tomography, and optical coherence tomography. Genetic testing involves analyzing the TCF4 gene and other genetic markers. Researchers will measure corneal cell density, thickness, nerve density, and visual function at baseline and monitor changes. The study includes regular follow-up visits to observe progression, with a focus on linking genetic findings to clinical outcomes. Participation requires willingness to provide informed consent, attend visits, and donate blood or saliva samples.

FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom