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.
Study Type
OBSERVATIONAL
Enrollment
208
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 will be performed (genetic analyses).
Slit lamp examination will be performed.
Chu Saint-Etienne
Saint-Etienne, France
Visual acuity
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.
Time frame: Year: 0 and 1
CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.
Time frame: Year: 0 and 1
Mutation rs613872
Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
Time frame: Year: 0 and 1
Other mutation
Analysis frequency of the other mutation type nucleotide polymorphisms in the intron of the Transcription Factor 4 (TCF4) gene.
Time frame: Year: 0 and 1
Refraction with the auto-refractor tonometry
Analysis refraction with the auto-refractor tonometry non-contact air.
Time frame: Year: 0 and 1
ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation
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).
Time frame: Year: 0 and 1
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interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography
Correlation between interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography results.
Time frame: Year: 0 and 1
Corneal thickness in Optical Coherence Tomography (OCT)
Comparison corneal thickness in Optical Coherence Tomography (OCT).
Time frame: Year: 0 and 1
Reflectivity results measure by Optical Coherence Tomography (OCT)
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.
Time frame: Year: 0 and 1