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| ID | Type | Description | Link |
|---|---|---|---|
| 2019-A00284-53 | 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. 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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with Fuchs Endothelial Corneal Dystrophy (FECD) | Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample. |
| |
| Control group | Witness will be included in control group. They will have a blood sample and slit lamp examination. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Collection of datas | Other | Collection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed. |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Year: 0 and 1 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Year: 0 and 1 |
| Mutation rs613872 |
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Inclusion Criteria:
For patient group:
For control group:
Exclusion Criteria:
For patient group:
For control group:
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There are 2 cohorts: patient and control.
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| Name | Affiliation | Role |
|---|---|---|
| Gilles THURET, MD PhD | Centre Hospitalier Universitaire de Saint Etienne | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Chu Saint-Etienne | Saint-Etienne | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39661178 | Derived | Dorado Cortez O, Fleischmann Caruso D, Crouzet E, Poinard S, Trone MC, Gain P, Okumura N, Koizumi N, Thuret G. Assessing Corneal Tomographic Changes in Fuchs Endothelial Corneal Dystrophy Over 1 Year: Scheimpflug Versus Anterior Segment Optical Coherence Tomography. Cornea. 2024 Dec 11;44(9):1127-1135. doi: 10.1097/ICO.0000000000003771. | |
| 39288343 |
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| ID | Term |
|---|---|
| D005642 | Fuchs' Endothelial Dystrophy |
| D003316 | Corneal Diseases |
| ID | Term |
|---|---|
| D003317 | Corneal Dystrophies, Hereditary |
| D005128 | Eye Diseases |
| D015785 | Eye Diseases, Hereditary |
| D030342 | Genetic Diseases, Inborn |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| D066167 | Slit Lamp |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Blood sample will be performed (genetic analyses).
| blood sample | Biological | Blood sample will be performed (genetic analyses). |
|
| slit lamp examination | Other | Slit lamp examination will be performed. |
|
Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
| 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. | Year: 0 and 1 |
| Refraction with the auto-refractor tonometry | Analysis refraction with the auto-refractor tonometry non-contact air. | 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). | Year: 0 and 1 |
| 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. | Year: 0 and 1 |
| Corneal thickness in Optical Coherence Tomography (OCT) | Comparison corneal thickness in Optical Coherence Tomography (OCT). | 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. | Year: 0 and 1 |
| Dorado-Cortez O, Crouzet E, Trone MC, Gain P, He Z, Vaitinadapoule H, Mentek M, Mascarelli F, Poinard S, Yasunaga M, Nishiuchi G, Koizumi N, Okumura N, Thuret G. Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year. Cornea. 2024 Oct 1;43(10):1207-1215. doi: 10.1097/ICO.0000000000003590. Epub 2024 Jul 9. |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
| D019721 | Ophthalmoscopes |
| D019719 | Diagnostic Equipment |
| D004864 | Equipment and Supplies |