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

Lead Sponsor: Centre Hospitalier Universitaire de Saint Etienne

Collaborator: Kyoto University, Graduate School of Medicine

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.

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.

• Fuchs Endothelial Corneal Dystrophy

Intervention Type: Other

Intervention Name: Collection of datas

Description: Collection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.

Arm Group Label: Patients with Fuchs Endothelial Corneal Dystrophy (FECD)

Intervention Type: Biological

Intervention Name: blood sample

Description: Blood sample will be performed (genetic analyses).

Intervention Type: Other

Intervention Name: slit lamp examination

Description: Slit lamp examination will be performed.

Arm Group Label: Control group

Sampling Method: Non-Probability Sample

Criteria:

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

Gender: All

Minimum Age: 18 Years

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Last Name: Gilles THURET, MD PhD

Phone: (0)477127540

Phone Ext.: +33

Email: [email protected]

France

August 2020

Type: Sponsor

• Cornea
• Fuchs Endothelial Corneal Dystrophy (FECD)
• slit lamp
• Transcription Factor 4 (TCF4)
• chromosome 18
• genetic

• Fuchs' Endothelial Dystrophy

Label: Patients with Fuchs Endothelial Corneal Dystrophy (FECD)

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

Label: Control group

Description: Witness will be included in control group. They will have a blood sample and slit lamp examination.

Observational Model: Cohort

Time Perspective: Prospective