Pseudoxanthoma Elasticum
Conditions
Brief summary
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).
Interventions
OTHERNo intervention
According to clinical practice.
Sponsors
University Hospital, Basel, Switzerland
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change in the rate of rod-mediated dark-adaptation at the leading disease front (i.e., change in the rod-intercept time [RIT in min] per year) | Two years from Baseline |
Secondary
| Measure | Time frame |
|---|---|
| Change in Bruch's membrane reflectivity | Two years from Baseline |
| Change in choriocapillaris loss | Two years from Baseline |
| Change in steady-state rod and cone sensitivity | Two years from Baseline |
Countries
Switzerland
Outcome results
None listed