Clinical Research Directory
Browse clinical research sites, groups, and studies.
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
Sponsor: Centre Hospitalier Universitaire de Saint Etienne
Summary
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered. There is a significant heterogeneity in the clinical forms and the investigators have just highlighted a great diversity of histological forms that seem to define distinct groups.
Official title: Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study (Phase 2), F3S2
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2024-08-08
Completion Date
2026-06-01
Last Updated
2024-08-09
Healthy Volunteers
No
Conditions
Interventions
Genotyping
Genotyping will measure the triple nucleotide repeat in the TCF4 gene and search for other known mutations in other genes Blood sample will be performed (genetic analyses).
Histology
Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis
Collection of data
Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.
Locations (1)
CHU Saint-Etienne
Saint-Etienne, France