Non-exudative macular neovascularization in pseudoxanthoma elasticum

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissue.
• PXE can lead to various ocular complications, including angioid streaks and macular changes.
• Macular neovascularization (MNV) is a known complication, but its non-exudative form in PXE requires further characterization.

Purpose of the Study:

• To investigate the prevalence and natural history of non-exudative macular neovascularization (MNV) in patients with pseudoxanthoma elasticum (PXE).
• To characterize the morphological retinal changes associated with PXE.
• To assess the utility of OCT-Angiography (OCT-A) in managing PXE patients.

Main Methods:

• Retrospective and cross-sectional study of 24 PXE patients (48 eyes) with a minimum 6-month follow-up.
• Multimodal imaging including color fundus photography, SD-OCT, OCT-A, and fundus autofluorescence.
• Independent grading of all images by two graders to evaluate PXE findings and complications.

Main Results:

• Angioid streaks and peau d'orange were prevalent findings.
• Macular neovascularization (MNV) was present in 75% of the cohort.
• Non-exudative MNV occurred in 33.33% of eyes; only 2 eyes progressed to exudation within 9.5 months. No visual acuity difference was noted between eyes with and without MNV.

Conclusions:

• Non-exudative MNV is a frequent finding in pseudoxanthoma elasticum (PXE).
• The majority of PXE eyes with non-exudative MNV do not progress to exudation during follow-up.
• OCT-Angiography (OCT-A) is valuable for managing ocular complications in PXE.