Back to today’s briefing

Story perspectives

Breakthrough PXE Research Unveiled at EURETINA 2025

10/6/2025

38 6

Summary

Story summary

Christina Pfau (University of Bonn) presented PXE research at the 2025 EURETINA meeting.
Her study used high-resolution OCT to study PXE-affected retina.
PXE is a rare genetic disease that can mimic age-related macular degeneration (AMD).
The ABCC6 gene links PXE with low pyrophosphate promoting calcification.
Multimodal imaging supports diagnosis and differentiation from AMD, while care involves specialists beyond ophthalmology.

1 of 1

Story summary

Christina Pfau (University of Bonn) presented PXE research at the 2025 EURETINA meeting.
Her study used high-resolution OCT to study PXE-affected retina.
PXE is a rare genetic disease that can mimic age-related macular degeneration (AMD).
The ABCC6 gene links PXE with low pyrophosphate promoting calcification.
Multimodal imaging supports diagnosis and differentiation from AMD, while care involves specialists beyond ophthalmology.