Did you know there’s a rare genetic eye condition that often gets mistaken for age-related macular degeneration (AMD)? It’s called pseudoxanthoma elasticum (PXE), and it’s far more complex than most people realize. At the 2025 EURETINA meeting, Dr. Kristina Pfau, a consultant ophthalmologist from the University of Bonn, shed light on this fascinating yet underrecognized disease. Her research, which leverages high-resolution OCT imaging, has uncovered groundbreaking insights into the retinal changes associated with PXE. But here’s where it gets controversial: while PXE shares symptoms with AMD, its genetic roots and systemic impact demand a completely different approach to diagnosis and treatment. And this is the part most people miss—PXE isn’t just an eye disease; it’s a systemic condition that requires multidisciplinary care beyond ophthalmology.
Dr. Pfau’s work focuses on the early stages of PXE, using advanced imaging to reveal how the Bruch’s membrane and retinal pigment epithelium (RPE) behave outside and within calcified areas. These findings could revolutionize how we measure outcomes in future clinical trials. But why does this matter? Because PXE can strike at any age, sometimes mimicking AMD so closely that even experts might misdiagnose it. This duality underscores the critical need for multimodal imaging—think fluorescein angiography and fundus autofluorescence—to spot the telltale signs, like calcified areas around the optic nerve and radiating streaks from the optic disc.
Now, let’s dive into the genetics. PXE is caused by mutations in a single gene, ABCC6, which encodes a liver transporter. Here’s the kicker: we still don’t fully understand what this transporter does, but we know it’s linked to low levels of pyrophosphate in patients’ blood. This deficiency triggers calcification, a hallmark of PXE. Researchers are now exploring therapies to boost pyrophosphate levels, either by supplementation or by slowing its breakdown. But here’s a thought-provoking question: If PXE is systemic, affecting arteries and the heart, should ophthalmologists take the lead in referring patients to angiology and general medicine specialists? Or is this a shared responsibility across disciplines?
Dr. Pfau’s message is clear: PXE demands a holistic approach. As an ophthalmologist, you’re often the first to spot the signs, but the care shouldn’t stop there. Patients need comprehensive monitoring to manage the disease’s broader impact. So, here’s a question for you: How can we better integrate ophthalmology with systemic care to improve outcomes for PXE patients? Share your thoughts in the comments—let’s spark a conversation that could shape the future of PXE management.
