Opthtalmologic diagnosis tests: Volunteer will be tested with : measurement of visual acuity, slit-lamp examination, fundus examination, optical coherence tomography
Study 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
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria:
* 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
Exclusion Criteria:
* 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
Primary outcome measure(s)
Mean percentage of choriocapillary flow deficits by OCT-A on 6x6 mm scans — Inclusion Comparison of macular choriocapillaris flow deficits per OCT angiography (OCT-A) between healthy controls and patients with pseudoxanthoma elasticum in pre-atrophic stage
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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