Ophthalmic Artery Vasculitis in VEXAS Syndrome: A Novel, Vision-Threatening Manifestation.

PURPOSE: To report a novel case of ophthalmic artery vasculitis with concurrent bilateral optic perineuritis secondary to VEXAS syndrome.

METHODS

Case report.

RESULTS

A 78-year-old male presented with acute-onset diplopia, left ptosis and blurred vision in the setting of recurrent systemic inflammation and chronic lymphocytic leukemia. Examination demonstrated a left relative afferent pupillary defect with severe bilateral colour vision deficiency. Magnetic resonance imaging revealed bilateral optic nerve sheath enhancement consistent with optic perineuritis and circumferential mural enhancement of the left ophthalmic artery. Temporal artery biopsy was unremarkable. Bone marrow biopsy revealed vacuolisation of myeloid precursors, and genetic testing confirmed somatic UBA1 gene mutation, diagnostic of VEXAS syndrome. The patient showed rapid clinical improvement following prompt initiation of high-dose corticosteroids and early transition to tocilizumab.

CONCLUSION

VEXAS syndrome may present with vision-threatening ophthalmic artery vasculitis and bilateral OPN, mimicking GCA. This expands the known ophthalmic spectrum of the disease and underscores the urgency for immediate immunosuppressive therapy.