A Rare Case of Retinal Vasculitis in a Patient With Autoimmune Lymphoproliferative Syndrome

Abstract

This report describes a case of retinal vasculitis in a patient with autoimmune lymphoproliferative syndrome (ALPS). A 13-year-old girl undergoing work-up for immune dysregulation was referred for retinal vasculitis. The patient was asymptomatic on presentation, but her retinal examination was remarkable for areas of outer retinal and choriocapillary loss and focal vascular inflammation. Subsequent bone marrow biopsy with genetic sequencing revealed a diagnosis of ALPS, and she was started on immunosuppression. Most cases of ocular ALPS have anterior involvement, but retinal changes may rarely occur in isolation. Patients with ALPS may benefit from routine eye examination and monitoring. [ Ophthalmic Surg Lasers Imaging Retina 2024;55:XX–XX.]