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The rare disease reference center " Wilson disease and other rare copper-related diseases" of the Rothschild Foundation follows a large number of patients with Wilson's with varying degrees of impairment and located at different times of their care.
Many people with Wilson's disease have a characteristic greenish-brown ring, known as Kayser-Fleischer, appearing at the periphery of the cornea due to a deposit of copper at the Descemet membrane. As a general rule, if the patient is compliant with his treatment, the ring usually disappears within a few years, although it may persist in some patients. However, apart from the stage of diagnosis, and the evolution of the ring, ophthalmological examinations are little used for the follow-up of these patients.
The objective of this study is to describe the retinal parameters, in particular vascular with two new retinal imaging technologies (OCT-A :Optical Coherence Tomography-Angiography , Adaptive optics) in patients with Wilson's disease and to correlate them with the parameters of the usual follow-up of these patients (hepatic assessment, exchangeable plasma copper, neurological scores, compliance, etc.).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Ophthalmological exam | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Ophthalmological exam | Procedure | Retinophotography, OCT-A (Optical Coherence Tomography- Angiography), OCT-B scan (Optical Coherence Tomography B Scan), Measurement of corrected visual acuity in ETDRS (Early Treatment Diabetic Retinopathy Study), Measurement of intraocular pressure, adaptive optics |
| Measure | Description | Time Frame |
|---|---|---|
| Measuring the width of the Kayser-Fleischer ring | OCT-B scan | Enrollment |
| Corrected visual acuity measurement | ETDRS | Enrollment |
| Intraocular pressure measurement (mmHg) | Enrollment | |
| Measurement of the thickness of the retinal nerve fibers layer (RNFL) | OCT-B | Enrollment |
| Measurement of the central avascular zone (in µm2) | OCT-A | Inclusion |
| Measurement of the capillary density of the superficial plexus (in%) | OCT-A | Enrollment |
| Measurement of the capillary density of the deep plexus (in%) | OCT-A | Enrollment |
| Measurement of photoreceptor density (per mm2) | Adaptive optics | Enrollment |
| Measurement of wall to lumen ratio (in %) | Adaptive optics | Enrollment |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Aurélia POUJOIS, MD | Fondation A. de Rothschild | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Fondation A. de Rothschild | Paris | 75019 | France |
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| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
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|
| Measurement of the arterial wall section area (µm²) | Adaptive optics | Enrollment |
| Measurement of the diameter of the arterial lumen (µm) | Adaptive optics | Enrollment |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |