New eye scan may spot early damage in rare genetic disease

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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