Long-term Visual Outcomes in Pseudoxanthoma Elasticum-associated Choroidal Neovascularization: A National Database...

Area of Science:

• Ophthalmology
• Medical Genetics
• Vascular Biology

Background:

• Pseudoxanthoma elasticum (PXE) is a rare systemic disorder characterized by calcification and fragmentation of elastic fibers.
• PXE can affect various tissues, including the eyes, leading to vision-threatening complications like choroidal neovascularization (CNV).

Purpose of the Study:

• To evaluate the treatment burden and long-term visual outcomes in patients diagnosed with PXE.
• To analyze the efficacy of anti-vascular endothelial growth factor (anti-VEGF) therapies in managing PXE-related CNV.

Main Methods:

• Retrospective, cross-sectional analysis of 171 patients with PXE from January 2015 to August 2024.
• Utilized ICD codes and natural language processing to identify PXE patients in the Vestrum Health database.
• Collected data on demographics, treatments received (primarily anti-VEGF), follow-up duration, and visual acuity.

Main Results:

• 79% of PXE eyes developed CNV, with 70% receiving anti-VEGF treatment (bevacizumab most common).
• Mean injections per year remained consistent (5.9-6.3) over 5 years.
• Eyes treated for CNV lost an average of 1, 4, and 7 letters at years 1, 3, and 5, respectively, with presenting visual acuity around 20/60.

Conclusions:

• Choroidal neovascularization is a frequent complication in PXE, often requiring repeated anti-VEGF injections.
• PXE-related CNV demonstrates a refractory nature, with consistent treatment frequency but significant long-term vision loss.
• The study underscores the challenges in managing PXE-related CNV and its impact on visual function.