Study of Genetic and Clinical Features in Fuchs Corneal Endothelial Dystrophy Patients in France Phase 2 French Fuchs Follow-up Study F3S2

What this Trial Is About

Researchers are investigating the genotype and phenotype relationships in Fuchs Corneal Endothelial Dystrophy FECD, one of the most common corneal endothelial dystrophies. This study aims to better understand the diverse clinical and histological forms of FECD by analyzing how genetic abnormalities relate to these variations. The study focuses on the genetic and histological factors that contribute to the formation of corneal endothelial abnormalities. Participants with FECD will undergo genetic testing to measure the triple nucleotide repeat in the TCF4 gene and check for other known mutations through blood samples. Histological analysis will be performed on Descemet membrane samples taken after Descemetorhexis surgery. Additionally, clinical data including slit lamp examination results will be collected to aid diagnosis. The study is observational and involves collecting data and samples from patients requiring endothelial keratoplasty. During the study, participants will have various eye assessments such as refraction, corneal thickness measured by Optical Coherence Tomography, pupil diameter, lens thickness, anterior chamber depth, and endothelial cell density after surgery. Researchers will analyze genetic markers like the CTG triplet repeats in the TCF4 gene and mutation frequencies. Participant involvement includes signing consent and providing blood samples, with data collected at inclusion and post-surgery timepoints. The study will monitor these outcomes to enhance understanding of FECD and its genetic factors.

Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France