Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration (PROPXE)

University Hospital Basel

Status: Active, not recruiting

Conditions: Pseudoxanthoma Elasticum

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT05662085

PROPXE

Details and patient eligibility

About

This study aims to systematically assess the retest reliability and ability to detect a change of new visual function tests and ophthalmological imaging methods for observing the natural course of pseudoxanthoma elasticum (PXE).

Enrollment: 25 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Adult patients with Pseudoxanthoma elasticum according to the Plomp criteria or adult patients with a PXE-mimicking phenotype (angioid streaks and peau d'orange [e.g., ENPP1 or GGCX-associated disease])
• Best-corrected visual acuity (BCVA): ≤1.0 LogMAR

Exclusion criteria

• Inability to give informed consent
• Claustrophobia
• Prior surgery (other than anti-VEGF injections, cataract surgery, YAG laser capsulotomy, or laser retinopexy) that - according to the investigator's judgment - may affect visual function assessments (e.g., retinal detachment surgery, glaucoma filtration surgery, or a history of a corneal transplant in the study-eye)
• Concurrent ophthalmic conditions in the study eye that (according to the investigator's judgment) may contribute to loss of vision, such as clinically significant opacification of the ocular media (corneal dystrophies, cataract), other retinal diseases, or disease of the optic nerve head and visual pathway (including amblyopia)
• Major surgery planned or other events that (according to the investigator's judgment) could hinder follow-up examinations (e.g., knee replacement)