Study Comparing Choriocapillaris Blood Flow in Healthy Adults and Patients With Pseudoxanthoma Elasticum Using OCT Angiography

What this Trial Is About

Researchers are studying pseudoxanthoma elasticum PXE, a rare genetic disease that causes excessive tissue mineralization leading to skin, vascular, and eye problems, including vision loss. This study aims to compare blood flow deficits in the choriocapillaris, a layer in the eye important for retinal health, between healthy individuals and PXE patients. The goal is to find early changes in eye structures that could help track the disease progression and support evaluation of future treatments. The study uses a non-invasive eye imaging technique called optical coherence tomography angiography OCT-A to measure choriocapillaris flow deficits. Participants include healthy volunteers and PXE patients in early disease stages. During a scheduled ophthalmology visit, participants undergo eye exams including visual acuity testing, slit lamp exam, fundus photography, and OCT-A scans. Additional patient history and genetic information are collected for PXE patients. The study plans to include 60 healthy controls and 60 PXE patients. Participants provide personal and medical history information and undergo detailed eye assessments to rule out other eye diseases. Imaging data from OCT-A scans are analyzed to measure blood flow deficits in a single selected eye. Researchers will compare these findings between groups and explore links to factors like skin inflammation and vascular issues. The study will continue until late 2026, with data collection occurring during the inclusion visit. Safety and image quality are closely monitored throughout.

CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum