Wilson Disease
Conditions
Keywords
Optical Coherence Tomography, Adaptive optics
Brief summary
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.).
Interventions
PROCEDUREOphthalmological exam
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
Sponsors
Fondation Ophtalmologique Adolphe de Rothschild
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of the capillary density of the deep plexus (in%) | Enrollment | OCT-A |
| Measuring the width of the Kayser-Fleischer ring | Enrollment | OCT-B scan |
| Corrected visual acuity measurement | Enrollment | ETDRS |
| Intraocular pressure measurement (mmHg) | Enrollment | — |
| Measurement of the thickness of the retinal nerve fibers layer (RNFL) | Enrollment | OCT-B |
| Measurement of the central avascular zone (in µm2) | Inclusion | OCT-A |
| Measurement of the capillary density of the superficial plexus (in%) | Enrollment | OCT-A |
| Measurement of photoreceptor density (per mm2) | Enrollment | Adaptive optics |
| Measurement of wall to lumen ratio (in %) | Enrollment | Adaptive optics |
| Measurement of the arterial wall section area (µm²) | Enrollment | Adaptive optics |
| Measurement of the diameter of the arterial lumen (µm) | Enrollment | Adaptive optics |
Countries
France
Outcome results
None listed