Study of Retinal Vascular Parameters in Patients With Wilson's Disease

Study Overview
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Brief Summary
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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.).

Official Title
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Study of Retinal Vascular Parameters in Patients With Wilson's Disease

Conditions
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Wilson Disease

Intervention / Treatment
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* Procedure: Ophthalmological exam


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Wilson's disease with Ferenci score ≥4 Exclusion Criteria: Neurological or behavioral handicap that does not allow for ophthalmological examinations Hepatic decompensation that does not allow for ophthalmological examinations Pregnant or breastfeeding woman

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Ophthalmological exam<br> | Procedure: Ophthalmological exam<br>* 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<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 
| Measurement of the arterial wall section area (µm²) | Adaptive optics | Enrollment | 
| Measurement of the diameter of the arterial lumen (µm) | Adaptive optics | Enrollment | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Optical Coherence Tomography, Adaptive optics