Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France.
- Conditions
- Fuchs Endothelial Corneal Dystrophy
- Interventions
- Other: Collection of datasBiological: blood sampleOther: slit lamp examination
- Registration Number
- NCT03974230
- Brief Summary
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
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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 208
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
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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients with Fuchs Endothelial Corneal Dystrophy (FECD) Collection of datas Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample. Patients with Fuchs Endothelial Corneal Dystrophy (FECD) blood sample Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample. Control group blood sample Witness will be included in control group. They will have a blood sample and slit lamp examination. Control group slit lamp examination Witness will be included in control group. They will have a blood sample and slit lamp examination.
- Primary Outcome Measures
Name Time Method Visual acuity Year: 0 and 1 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.
- Secondary Outcome Measures
Name Time Method Mutation rs613872 Year: 0 and 1 Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
Refraction with the auto-refractor tonometry Year: 0 and 1 Analysis refraction with the auto-refractor tonometry non-contact air.
CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene Year: 0 and 1 Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.
Corneal thickness in Optical Coherence Tomography (OCT) Year: 0 and 1 Comparison corneal thickness in Optical Coherence Tomography (OCT).
Reflectivity results measure by Optical Coherence Tomography (OCT) Year: 0 and 1 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.
ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation Year: 0 and 1 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).interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography Year: 0 and 1 Correlation between interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography results.
Other mutation Year: 0 and 1 Analysis frequency of the other mutation type nucleotide polymorphisms in the intron of the Transcription Factor 4 (TCF4) gene.
Trial Locations
- Locations (1)
Chu Saint-Etienne
🇫🇷Saint-Étienne, France