Pseudoxanthoma elasticum: A case study of three family members

Abstract

Aims/Purpose: To evaluate the evolution and various clinical presentations of pseudoxanthoma elasticum in three family members.

Methods: Continuous follow-up was conducted in the outpatient ophthalmology clinics at our hospital. Clinical characteristics, including the presence of exudation, neovascular membranes, angioid streaks, and posterior pole atrophy, were documented and analyzed through detailed ophthalmological examinations and imaging tests. Visual acuity was assessed, and autofluorescence imaging was performed. Additionally, optical coherence tomography (OCT) and OCT angiography (OCT-A) were utilized to obtain high-resolution images of the retina and its blood flow.

Results: One daughter presented with exudation accompanied by a neovascular membrane, which was treated with intravitreal anti-VEGF injections. The other daughter maintains good vision and shows angioid streaks in the fundus without macular involvement. The mother is in an advanced stage of the disease, with significant retinoschisis and posterior pole atrophy.

Conclusions: This case study highlights the variability in the presentation and progression of pseudoxanthoma elasticum within the same family. Continuous and personalized follow- up is crucial for the appropriate management and early detection of complications in PXE patients.