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

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

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.

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