Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France (F3S2)

Centre Hospitalier Universitaire de Saint Etienne

Status: Enrolling

Conditions: Corneal Dystrophies

Treatments: Other: Collection of data; Diagnostic Test: Histology; Genetic: Genotyping

Study type: Observational

Funder types: Other

Identifiers

NCT05742321

22CH354

2022-A01217-36 (Other Identifier)

Details and patient eligibility

About

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.

Full description

The most frequent genetic abnormalities have been published since 10 years and can now be easily searched. This study is going to analyze the relationships between clinical, histological and genetic forms in a large population to better understand how histological abnormalities are formed.

Enrollment: 500 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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 criteria

• Patients under guardianship or curators

Trial design

500 participants in 1 patient group

Patients with FECD

Description:

Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample

Treatment:

Genetic: Genotyping

Diagnostic Test: Histology

Other: Collection of data