Corneal Dystrophies
Conditions
Keywords
Corneal Dystrophies, Corneal Endothelial Dystrophy, Fuchs' Corneal Endothelial Dystrophy, FECD
Brief summary
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.
Detailed description
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.
Interventions
GENETICGenotyping
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).
DIAGNOSTIC_TESTHistology
Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis
OTHERCollection of data
Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.
Sponsors
Kyoto University, Graduate School of Medicine
Centre Hospitalier Universitaire de Saint Etienne
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* affiliated with or entitled to a social security scheme * Consent form to participate in the study signed * with an FECD certified by slit lamp examination * requiring an endothelial keratoplasty
Exclusion criteria
\- Patients under guardianship or curators
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene | At inclusion | Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) | At inclusion | 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). |
| Corneal thickness in Optical Coherence Tomography (OCT) | At inclusion | Corneal thickness measured by OCT in micrometers |
| Diameter of the dilated pupil (mm) | At inclusion | Measured by contact or non-contact biometry |
| Thickness of the lens (mm) | At inclusion | Measured by contact or non-contact biometry |
| Refraction with the auto-refractor tonometry | At inclusion | Analysis refraction with the auto-refractor tonometry non-contact air. |
| Endothelial cell density measurement (cells/mm2) | Immediately after surgery of corneal transplantation | Endothelial cell density (cells/mm2) in the center and in the 4 standardized cardinal positions high low nasal temporal. |
| Crystalline analysis | Immediately after surgery of corneal transplantation | Crystalline : clear lens, cataract, intraocular implant, aphakic |
| Family cases of Fuchs' Corneal Endothelial Dystrophy | At inclusion | Family cases: absent/probable/advanced |
| Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene. | At inclusion | PCR reactions will be performed from DNA (blood sample) |
| Depth of the anterior chamber (mm) | At inclusion | Measured by contact or non-contact biometry |
Countries
France
Contacts
Primary ContactGILLES THURET, MD-PhD
Backup ContactPHILIPPE GAIN, MD-PhD
Outcome results
None listed