PXE is a rare genetic disorder with pathological calcifications in the skin, blood vessels and retina. The latter results in a retinal degeneration with poor vision from age 50 years on. The UMC Utrecht has established the National Center of Expertise in PXE and has assembled a world-wide unique cohort of over 400 patients. Within this cohort, observational and interventional studies are performed. We have collected extensive imaging data of the eye, including optical coherence tomography (OCT), infracyanine green angiography (ICG) and fundus autofluorescence (FAF). In a previous PhD-project, we developed an innovative technique to measure retinal calcification using the Spectralis®-OCT scan. With the use of segmentation software, the reflectivity values of retinal layers were obtained, which are presumed to be a proxy for calcification. This technique will be improved and validated.  

Part of this project is the analysis of retinal imaging in the placebo-controlled TEMP Prevent trial. In addition, you will study the immunological response in the retina of PXE patients to a breakup of the blood-retina barrier, visualized by OCT and ICG images.

Your task will be to design new methods and improve current techniques of retinal imaging of calcification in PXE. These methods will be applied to existing and newly acquired imaging. The results of the studies will be published in scientific journals and presented at scientific meetings. 

If you enjoy working on creative and out-of-the-box solutions for difficult problems and are capable of working in a multidisciplinary team, we are looking for you. As a PhD candidate, you will enroll in the PhD program Medical Imaging of the Utrecht University Graduate School of Life Sciences. You will also be introduced to the field of retinal imaging and be part of the clinical retina research group.