Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. (F3S)

Centre Hospitalier Universitaire de Saint Etienne

Status

Completed

Conditions

Fuchs Endothelial Corneal Dystrophy

Treatments

Other: Collection of datas

Biological: blood sample

Other: slit lamp examination

Study type

Observational

Funder types

Other

Identifiers

NCT03974230

2019-A00284-53 (Other Identifier)

18CH199

Details and patient eligibility

About

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.

Full description

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.

Enrollment

208 patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

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: