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

Study Overview
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Brief Summary
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The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy (FECD)) is beginning to be dismembered. One of the most common genetic anomalies is a triplet repetition in one of the introns of the Transcription Factor 4 (TCF4) gene located on chromosome 18. However, the number of repetitions varies greatly from one patient to another.

Detailed Description
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The intent of that study was to analyse if there is a relationship between the number of triplet repetitions and the rate of disease progression. This knowledge would make it possible to personalize the care.

Official Title
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Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S

Conditions
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Fuchs Endothelial Corneal Dystrophy

Intervention / Treatment
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* Other: Collection of datas
* Biological: blood sample
* Other: slit lamp examination


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: For patient group: >18 years old affiliated with or entitled to a social security scheme having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination For control group: >18 years old affiliated with or entitled to a social security scheme having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study Exclusion Criteria: For patient group: Patients under guardianship or curatorship Patient planning to move within the year With no evidence of ophthalmological pathology requiring intraocular surgery within one year of the first visit Better initial corrected visual acuity <1/10 Not having had intraocular surgery in the 6 months prior to inclusion (after 6 months, the endothelium is considered stabilized) Not having any other progressive pathology responsible for a decrease in visual acuity (significant cataract Lens Opacities Classification System (LOCS) >2 ; progressive retinal pathology, in particular age-related macular degeneration, unstabilized macular edema) For control group: Patients under guardianship or curatorship with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with Fuchs Endothelial Corneal Dystrophy (FECD)<br>Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample. | Other: Collection of datas<br>* Collection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.<br>Biological: blood sample<br>* Blood sample will be performed (genetic analyses).<br>|
| Control group<br>Witness will be included in control group. They will have a blood sample and slit lamp examination. | Biological: blood sample<br>* Blood sample will be performed (genetic analyses).<br>Other: slit lamp examination<br>* Slit lamp examination will be performed.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Visual acuity | Correlation between visual acuity measured before noon eye by eye of ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) results and number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene. | Year: 0 and 1 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene | Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene. | Year: 0 and 1 | 
| Mutation rs613872 | Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene. | Year: 0 and 1 | 
| Other mutation | Analysis frequency of the other mutation type nucleotide polymorphisms in the intron of the Transcription Factor 4 (TCF4) gene. | Year: 0 and 1 | 
| Refraction with the auto-refractor tonometry | Analysis refraction with the auto-refractor tonometry non-contact air. | Year: 0 and 1 | 
| ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation | Correlation between visual acuity measured before noon eye by eye on the ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation. ETDRS (Early Treatment Diabetic Retinopathy Study) scale will be allowed to measure visual acuity uses an eye chart with 5 letters per line. The scores range from 0 (no letters read correctly) to 100 (all letters read correctly). | Year: 0 and 1 | 
| interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography | Correlation between interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography results. | Year: 0 and 1 | 
| Corneal thickness in Optical Coherence Tomography (OCT) | Comparison corneal thickness in Optical Coherence Tomography (OCT). | Year: 0 and 1 | 
| Reflectivity results measure by Optical Coherence Tomography (OCT) | Comparison reflectivity results measure by Optical Coherence Tomography (OCT). Optical Coherence Tomography (OCT) is an imaging technique, which is able to produce, in vivo, cross-sectional images of lesions. | Year: 0 and 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Cornea, Fuchs Endothelial Corneal Dystrophy (FECD), slit lamp, Transcription Factor 4 (TCF4), chromosome 18, genetic