Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Genotyping, Histology, Collection of data.
- Who it may be relevant to
- Registry conditions: Corneal Dystrophies. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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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
Overview
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.
Detailed 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.
Interventions
- Genetic 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). - Diagnostic test Histology
Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis - Other Collection of data
Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.
Primary outcome measures
- Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene [Time frame: At inclusion]
Secondary outcome measures (10)
- Refraction with the auto-refractor tonometry [Time frame: At inclusion]
- ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) [Time frame: At inclusion]
- Corneal thickness in Optical Coherence Tomography (OCT) [Time frame: At inclusion]
- Diameter of the dilated pupil (mm) [Time frame: At inclusion]
- Thickness of the lens (mm) [Time frame: At inclusion]
- Depth of the anterior chamber (mm) [Time frame: At inclusion]
- Endothelial cell density measurement (cells/mm2) [Time frame: Immediately after surgery of corneal transplantation"]
- Crystalline analysis [Time frame: Immediately after surgery of corneal transplantation"]
- Family cases of Fuchs' Corneal Endothelial Dystrophy [Time frame: At inclusion]
- Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene. [Time frame: At inclusion]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- CHU Saint-Etienne — Saint-Etienne
Identifiers
NCT: NCT05742321 · 22CH354 · 2022-A01217-36