Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study (Phase 2), F3S2
Centre Hospitalier Universitaire de Saint Etienne
500 participants
Aug 8, 2024
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria4
- affiliated with or entitled to a social security scheme
- Consent form to participate in the study signed
- with an FECD certified by slit lamp examination
- requiring an endothelial keratoplasty
Exclusion Criteria1
- \- Patients under guardianship or curators
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Interventions
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 will be performed on flat mounted Descemet membrane obtained after Descemetorhexis
Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT05742321