An observational study in Corneal Dystrophies, sponsored by Centre Hospitalier Universitaire de Saint Etienne. Recruiting at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-05-06.
Sponsored by Centre Hospitalier Universitaire de Saint Etienne · Observational
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered. There is a significant heterogeneity in the clinical forms and the investigators have just highlighted a great diversity of histological forms that seem to define distinct groups.
The most frequent genetic abnormalities have been published since 10 years and can now be easily searched. This study is going to analyze the relationships between clinical, histological and genetic forms in a large population to better understand how histological abnormalities are formed.
31 studies on the registry are indexed under Corneal Dystrophies, Hereditary; 9 are open to participants now.
This study's planned enrollment of 500 is above the median of 373 across 12 observational studies indexed under Corneal Dystrophies, Hereditary.
Browse Corneal Dystrophies, Hereditary studies →Centre Hospitalier Universitaire de Saint Etienne is the lead sponsor of 597 studies on the registry; 127 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patient with FECD as evidenced by slit lamp examination and scheduled for endothelial transplantation within one quarter of inclusion;
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
- Patients under guardianship or curators
Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample
Genetic: Genotyping · Diagnostic Test: Histology · Other: Collection of data
Genotyping will measure the triple nucleotide repeat in the TCF4 gene and search for other known mutations in other genes Blood sample will be performed (genetic analyses).
Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis
Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.
Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
Time frame: At inclusion
Refraction with the auto-refractor tonometry
Analysis refraction with the auto-refractor tonometry non-contact air.
Time frame: At inclusion
ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)
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: At inclusion
Corneal thickness in Optical Coherence Tomography (OCT)
Corneal thickness measured by OCT in micrometers
Time frame: At inclusion
Diameter of the dilated pupil (mm)
Measured by contact or non-contact biometry
Time frame: At inclusion
Thickness of the lens (mm)
Measured by contact or non-contact biometry
Time frame: At inclusion
Depth of the anterior chamber (mm)
Measured by contact or non-contact biometry
Time frame: At inclusion
Endothelial cell density measurement (cells/mm2)
Endothelial cell density (cells/mm2) in the center and in the 4 standardized cardinal positions high low nasal temporal.
Time frame: Immediately after surgery of corneal transplantation"
Crystalline analysis
Crystalline : clear lens, cataract, intraocular implant, aphakic
Time frame: Immediately after surgery of corneal transplantation"
Family cases of Fuchs' Corneal Endothelial Dystrophy
Family cases: absent/probable/advanced
Time frame: At inclusion
Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
PCR reactions will be performed from DNA (blood sample)
Time frame: At inclusion
Plan to share: No
No publications or documents are linked to this record.
Started Aug 2024 (actual). Primary completion is estimated for Jun 2026, 21 months after the start.
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Corneal Dystrophies, Hereditary →
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