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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

208 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-08-01

Study Completion Date

2021-12-14

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.

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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.

Conditions

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Fuchs Endothelial Corneal Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with Fuchs Endothelial Corneal Dystrophy (FECD)

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

Collection of datas

Intervention Type OTHER

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

blood sample

Intervention Type BIOLOGICAL

Blood sample will be performed (genetic analyses).

Control group

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

blood sample

Intervention Type BIOLOGICAL

Blood sample will be performed (genetic analyses).

slit lamp examination

Intervention Type OTHER

Slit lamp examination will be performed.

Interventions

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Collection of datas

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

Intervention Type OTHER

blood sample

Blood sample will be performed (genetic analyses).

Intervention Type BIOLOGICAL

slit lamp examination

Slit lamp examination will be performed.

Intervention Type OTHER

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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes