Bilateral Alternate Orbital and Ocular Manifestations in a VEXAS Syndrome Patient

VEXAS syndrome, caused by somatic UBA1 gene mutations, is a recently described autoinflammatory disorder characterized by systemic inflammation and hematologic abnormalities. Ocular involvement occurs in 28-40% of cases. This report describes a unique case of VEXAS syndrome with recurrent bilateral orbital and ocular inflammation, including the first documented concurrent ocular and orbital disease in the same patient, as well as of vitritis.

A 79-year-old male presented with recurrent bilateral orbital and ocular inflammation, featuring periorbital oedema, dacryoadenitis, fibrinous anterior uveitis, vitritis, and macular oedema. He also developed fatigue, malaise, weight loss, dry cough, shortness of breath, joint and muscle pain, and chest pain and was followed for over one year.

Diagnostic work-up included multimodal ophthalmic imaging, CT orbits and serologic testing. The diagnosis was confirmed by genetic testing for UBA1 mutation and bone marrow biopsy. Treatment with oral corticosteroids led to complete resolution of symptoms, both ophthalmologically and systemically, and tocilizumab was later added as a second line immunosuppression steroid-sparing agent.

This case emphasises the importance of considering VEXAS syndrome in the diagnosis of patients with recurrent orbital and ocular inflammation. It also reiterates the effectiveness of corticosteroids and tocilizumab association in managing this complex condition, contributing to the growing understanding of VEXAS syndrome and its ophthalmological features.