Two New Publications on PXE
We are pleased to share two new publications from our group that jointly strengthen the clinical relevance of Bruch’s membrane (BrM) calcification in pseudoxanthoma elasticum (PXE) and demonstrate how high-resolution OCT (HR-OCT) can visualize BrM alterations with improved anatomical precision. Together, these studies provide complementary structural and functional evidence that BrM calcification is a meaningful disease marker and support its development as an endpoint for future therapeutic trials.
1. Reliability and functional validity of Bruch’s membrane calcification assessment
Giger, J. A. W., Ansari, G., Terry, S. F., Charbel Issa, P., Pfau, K., & Pfau, M. Measurement Reliability and Functional Validity of Bruch’s Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2. Investigative Ophthalmology & Visual Science. 2025;66(14):29. https://doi.org/10.1167/iovs.66.14.29
This multicentre natural-history study demonstrated that measuring the temporal inner peau d’orange boundary provides highly reproducible estimates of BrM calcification (inter-reader ICC 0.92; inter-visit ICC 0.95). Calcification extent increased with age and showed a strong association with delayed rod-mediated dark adaptation. Participants with more extensive BrM calcification exhibited meaningfully worse adaptation times across multiple eccentricities, indicating that calcification reflects current functional impairment. These results support BrM calcification as a reliable and clinically relevant structural measure in PXE.
2. High-resolution OCT correlates in PXE
Meinke, J., Raming, K., Kessler, C., Holz, F. G., Pfau, M., & Pfau, K. High-Resolution Optical Coherence Tomography Correlates of Peau d’Orange in Pseudoxanthoma Elasticum. JAMA Ophthalmology. 2025 Nov 6:e254031. https://doi.org/10.1001/jamaophthalmol.2025.4031
This prospective case–control study applied HR-OCT (~3 µm axial resolution) to visualize microstructural changes within the RPE–BrM complex in PXE. Distinct transitions zones in HR-OCT corresponded closely to peau d’orange regions seen in en face imaging. These features were consistent across subjects and reflected the spatial progression of calcification. The results demonstrate that HR-OCT can capture in vivo tissue-level correlates of BrM calcification that were previously inaccessible with standard imaging.