CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum
This observational study sets out to compare choriocapillaris flow deficits between healthy control subjects and patients with pseudoxanthoma elasticum. Pseudoxanthoma elasticum (PXE) is a rare, incurable hereditary disease caused by genetic mutations. The condition is characterised by excessive tissue mineralisation, which can result in a range of dermatological, vascular, and ophthalmological complications. Among these complications is the potential for visual impairment. The management of this condition is focused on the treatment of its complications. Degeneration of the retina and the choroid (the layer responsible for ensuring its vascularisation) occurs in the eye, resulting in premature degeneration. We would like to study the premature alteration of these structures, which could subsequently be used as an objective marker of the evolution of pseudoxanthoma elasticum.
• Participant not afflicted by the disease under investigation and without ophthalmological pathology
• Person matched in age (+/- 5 years) and gender to a case (patient with PXE in pre-atrophic stages included in the PXE cohort)
• Signature of informed consent for participation in the protocol
• Adult at time of inclusion Criteria for non-inclusion of research subjects
• Known ophthalmological diseases (maculopathy, glaucoma, optic neuropathy, retinopathy whatever the aetiology)
• Known severe myopia, defined by a sphere \> - 6 dioptres
• Diabetic subject
• Unable to carry out the ophthalmological examinations of the study
• Pregnant, breast-feeding or parturient woman
• Person undergoing psychiatric care under constraint
• Person subject to a legal protection measure
• Person not affiliated or not benefiting from a social security scheme