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| ID | Type | Description | Link |
|---|---|---|---|
| 2022-A01217-36 | Other Identifier | ANSM |
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| Name | Class |
|---|---|
| Kyoto University, Graduate School of Medicine | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with FECD | Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genotyping | Genetic | 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). |
| Measure | Description | Time Frame |
|---|---|---|
| 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) | At inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| Refraction with the auto-refractor tonometry | Analysis refraction with the auto-refractor tonometry non-contact air. | At inclusion |
| ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) |
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Inclusion Criteria:
Exclusion Criteria:
- Patients under guardianship or curators
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Patient with FECD as evidenced by slit lamp examination and scheduled for endothelial transplantation within one quarter of inclusion;
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| GILLES THURET, MD-PhD | Contact | (0)477127793 | +33 | gilles.thuret@univ-st-etienne.fr |
| PHILIPPE GAIN, MD-PhD | Contact | 0477127793 | +33 | philippe.gain@chu-st-etienne.fr |
| Name | Affiliation | Role |
|---|---|---|
| GILLES THURET, MD-PhD | CHU DE SAINT-ETIENNE | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Saint-Etienne | Recruiting | Saint-Etienne | 42055 | France |
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| ID | Term |
|---|---|
| D003317 | Corneal Dystrophies, Hereditary |
| C562745 | Corneal Dystrophy, Posterior Polymorphous, 1 |
| D005642 | Fuchs' Endothelial Dystrophy |
| ID | Term |
|---|---|
| D003316 | Corneal Diseases |
| D005128 | Eye Diseases |
| D015785 | Eye Diseases, Hereditary |
| D030342 | Genetic Diseases, Inborn |
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| ID | Term |
|---|---|
| D005838 | Genotype |
| D016626 | Shadowing Technique, Histology |
| ID | Term |
|---|---|
| D055614 | Genetic Phenomena |
| D013194 | Staining and Labeling |
| D016591 | Histocytological Preparation Techniques |
| D003584 | Cytological Techniques |
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Blood sample will be performed (genetic analyses)
| Histology | Diagnostic Test | Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis |
|
| Collection of data | Other | Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed. |
|
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).
| At inclusion |
| Corneal thickness in Optical Coherence Tomography (OCT) | Corneal thickness measured by OCT in micrometers | At inclusion |
| Diameter of the dilated pupil (mm) | Measured by contact or non-contact biometry | At inclusion |
| Thickness of the lens (mm) | Measured by contact or non-contact biometry | At inclusion |
| Depth of the anterior chamber (mm) | Measured by contact or non-contact biometry | 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. | Immediately after surgery of corneal transplantation" |
| Crystalline analysis | Crystalline : clear lens, cataract, intraocular implant, aphakic | Immediately after surgery of corneal transplantation" |
| Family cases of Fuchs' Corneal Endothelial Dystrophy | Family cases: absent/probable/advanced | 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) | At inclusion |
| D009358 |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D006652 | Histological Techniques |
| D008919 | Investigative Techniques |