Bilateral Vaso-Occlusive Retinopathy Unmasking Primary Antiphospholipid Syndrome in a Child

To report a rare case of primary pediatric antiphospholipid syndrome (APS) presenting with severe bilateral vaso-occlusive retinopathy as the initial manifestation, and to discuss its diagnostic and therapeutic implications.

We report the clinical presentation, multimodal imaging findings, systemic work-up, and management of a 12-year-old girl with bilateral vaso-occlusive retinopathy as the presenting feature of primary antiphospholipid syndrome.

A 12-year-old girl with no prior medical history presented with incidentally detected visual loss in the left eye. Best-corrected visual acuity (BCVA) was 20/50 in the right eye (RE) and no light perception in the left eye (LE). Fundus examination revealed peripheral vascular sheathing and preretinal neovascularization in the RE, and tractional retinal detachment in the LE. Fluorescein angiography (FA) demonstrated extensive areas of peripheral non perfusion in the RE and fibrovascular proliferation in the LE. The diagnosis of primary pediatric APS was established based on the persistent positivity of lupus anticoagulant in the absence of an underlying autoimmune disorder. A multidisciplinary approach was adopted, involving ophthalmologists, pediatricians, and neurologists. The patient received intravenous corticosteroids, plasmapheresis, systemic anticoagulation (low-molecular-weight heparin bridged to warfarin), and panretinal photocoagulation in both eyes. At 18 months of follow-up, BCVA in the RE improved to 20/20, with neovascular regression on FA. The LE, however, progressed to total tractional retinal detachment.

Primary pediatric APS may initially present with devastating bilateral vaso-occlusive retinopathy. Early recognition through systematic antiphospholipid antibody testing and prompt multidisciplinary management are essential for preserving vision.