Abstract
Background: Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the skin, eyes, and vascular system. It commonly presents with retinal angioid streaks (ASs) and can lead to vision loss due to subretinal neovascularizations and macular atrophy. Diagnosis is confirmed through skin biopsies showing calcified elastic fibers or identifying biallelic ABCC6 pathogenic variants. This case report is novel as it describes the clinical course of choroidal neovascularization (CNV) secondary to PXE treated with vitrectomy and intravitreal ranibizumab and aflibercept injections in both eyes. Case Presentation: A 68-year-old woman presented with vision loss in her right eye. Her medical history included hypertension, uterine fibroids, and multiple drug allergies. Ophthalmic examination revealed radial AS around the optic discs and subretinal hemorrhages in the right eye. Fluorescein angiography and optical coherence tomography confirmed CNV and fresh subretinal hemorrhage. A series of vitrectomies and intravitreal injections of ranibizumab and aflibercept were performed to manage the CNV and submacular hemorrhage. Despite recurrence, subsequent surgeries stabilized her condition, improving her best-corrected visual acuity to 20/125 in the right eye over 6 years. A skin biopsy confirmed the diagnosis of PXE, a condition she had overlooked for over 30 years. Conclusions: This case emphasizes the importance of early detection of AS through thorough fundus examination, alongside comprehensive evaluation for systemic conditions. Management of CNV in PXE involves the prompt use of intravitreal anti-VEGF injections and vitrectomy with tissue plasminogen activator (tPA) for controlling CNV activity and submacular hemorrhage. Ophthalmologists should consider PXE in patients presenting with characteristic skin and eye findings and refer them for dermatological evaluation as necessary.