Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)

What this Trial Is About

Researchers are conducting a monocentric observational study at the University Eye Hospital Bonn to explore the natural history and structural effects of a diseased Bruch's membrane (BrM) in people with Pseudoxanthoma Elasticum (PXE). The study aims to analyze BrM changes, choriocapillaris blood flow deficits, progression of retinal atrophy, and how different ABCC6 gene mutations relate to disease features and severity. The goal is to provide insights that could guide personalized treatments and improve patient counseling. The study will include 100 genetically confirmed PXE patients and 100 healthy controls. Participants will undergo non-invasive imaging methods such as high-resolution optical coherence tomography (OCT), OCT angiography, fundus photography, and infrared reflectance imaging. Blood samples will also be collected. Data will be gathered over a 10-year period, with specific attention to changes observed over two years, including the size of 'Peau d'orange', BrM alterations, choriocapillaris flow voids, and angioid streak length. Participants will be asked to hold still during imaging sessions to ensure accurate data capture. The study involves regular monitoring of eye structures and blood flow, as well as genetic analysis. Researchers will measure disease progression through various imaging outcomes and gene mutation correlations. Although no direct benefit is expected for participants, the findings may help shape future clinical trials and improve care for PXE patients.

Progression Assessment of PXE-associated Alterations