Orbital inflammation in VEXAS syndrome

INTRODUCTION: Vacuoles, E1-ligase, X-linked Auto-inflammatory, Somatic (VEXAS) syndrome is a recently described multisystem inflammatory disorder. Ocular features are described, though not well known; we aimed to describe them.

METHODS: This is a case series of VEXAS patients submitted by ophthalmologists from relevant specialty organisations, including the Australian and New Zealand Society of Ophthalmic Plastic Surgeons, British Oculoplastic Surgical Society and the Orbital Society. Patient consent was received.

RESULTS: 14 males with VEXAS syndrome and eye features were included, median age 73 years (range 49-78). The associated UBA1 mutation was most commonly p.Met41Val (n=8, 57%), and most patients were Caucasian (n=11, 79%). All patients reported eyelid swelling (n=14, 100%); the next most frequent symptom was eye pain (n=10, 71%). Eye symptoms showed variable duration at presentation, most commonly 2-7 days (n=6, 43%). Eye involvement was typically bilateral (metachronous n=5, 36%, synchronous n=2, 14%). Overall, visual acuity was normal and did not change. Severe vision loss occurred unilaterally in two patients (14%), due to orbital compartment syndrome and periorbital necrotising fasciitis. Ophthalmologist-reported clinical features included periorbital oedema, present in all cases (n=14, 100%), followed by dacryoadenitis (n=8, 57%) and orbital myositis (n=7, 50%). There were no cases of posterior segment inflammation. Death due to complications of VEXAS occurred in one patient (7%).

CONCLUSION: Orbital inflammation was a feature in all cases of VEXAS with eye involvement, and severe loss of vision occurred unilaterally in 14%. Ocular complaints in VEXAS patients should prompt urgent ophthalmic assessment.