Abstract Listings 2026

Purpose

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a rare, recently described, adult-onset autoinflammatory condition caused by somatic mutations of the UBA1 gene. This mutation dysregulates innate immune signaling, driving pathological myeloid-skewed inflammation. Orbital inflammation is the most common ophthalmic manifestation, with periorbital oedema, orbital myositis, and dacryoadenitis among the described features. Optic perineuritis is rarely reported. The purpose of this study is to report a case of recurrent orbital inflammation and optic perineuritis in a patient with VEXAS syndrome occurring in the setting of sequential infections.

Methods

A case report at a single-institution. This case is considered exempt by the Mass General Brigham IRB.

Results

An 86-year-old man with known VEXAS syndrome presented with binocular diplopia, periocular pain, and orbital inflammation following a dental infection. Examination revealed right ptosis, chemosis, and ophthalmoplegia. Imaging demonstrated orbital inflammatory changes and optic perineuritis extending toward the cavernous sinus without sinus disease or abscesses. Symptoms failed to improve with antibiotics and dental extraction but resolved rapidly following high-dose corticosteroids. Two months later, the patient developed similar inflammatory findings in the contralateral orbit during a systemic infectious episode with leukocytosis. Imaging again showed orbital inflammation without abscess. Symptoms resolved with supportive treatment and corticosteroid therapy.

Conclusion

This case expands the spectrum of ophthalmic manifestations of VEXAS syndrome to include recurrent optic perineuritis and suggests that infections may trigger orbital inflammatory flares despite otherwise controlled systemic disease. Prompt recognition of this association may facilitate earlier diagnosis and treatment of vision-threatening inflammation in affected patients.

Additional Authors

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