RecruitingNot ApplicableNCT07006649

CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum

Sponsor

University Hospital, Angers

Enrollment

60 participants

Start Date

Nov 28, 2025

Study Type

INTERVENTIONAL

Conditions

Pseudoxanthoma Elasticum

Summary

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.

Eligibility

Min Age: 18 Years

Inclusion Criteria11

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
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

Exclusion Criteria13

Ophthalmic pathology (maculopathy, glaucoma, optic neuropathy, retinopathy, whatever the etiology) discovered during the ophthalmic workup
AngioOCT examination inexploitable (artifact and/or image quality less than 50/100 even after pupillary dilation)
Severe myopia (sphere \> - 6 dioptres) discovered during the ophthalmic workup.
Case inclusion critera :
Patient diagnosed with pseudoxanthoma elasticum, defined according to Plomp's criteria: two out of three features related to PXE: (1) two pathogenic mutations in the ABCC6 gene, and/or (2) disease-specific dermatological changes and/or (3) disease-specific ocular changes;
Included in the PXE cohort ;
With pre-atrophic damage, i.e. at least one eye without choroidal neovessels on OCT-A, without previous intravitreal injection of anti-VEGF, and without major retinal atrophy (less than 2 papillary diameters);
who have had an angiographic OCT (performed during follow-up consultations) with usable results (no artifacts and image quality of 50/100 or better) ;
patient's non-objection to participation in a study
Case criteria for non-inclusion :
Other known ophthalmological pathology (maculopathy, glaucoma, optic neuropathy, retinopathy of any etiology)
Severe myopia, defined by a sphere \> - 6 dioptres
Diabetic subject