Subconjunctival Lesion in VEXAS Syndrome: Expanding the Ocular Disease Spectrum

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic, syndrome is a newly recognized autoinflammatory disorder. The authors report a novel case presenting with a subconjunctival lesion as an ocular manifestation. A 77-year-old man presented with bilateral orbital swelling, peripheral edema, weight loss, respiratory decline, and transfusion-dependent anemia. Ocular examination revealed periorbital edema, restricted motility, significant OS conjunctival injection and chemosis, particularly focused around a superotemporal subconjunctival lesion. Laboratory results showed raised inflammatory markers and normocytic anemia. MRI showed left periorbital edema without postseptal involvement. Treatment with broad-spectrum antibiotics was commenced; however, inflammation and deterioration progressed. Biopsy of the subconjunctival lesion revealed nonspecific fibrinous material without infection or malignancy. Diagnosis of Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic was confirmed by detecting a somatic ubiquitin-like modifier activating enzyme 1 mutation (c.121A>G, p.Met41Val). The patient deteriorated and died of multiorgan failure. This case adds to the expanding spectrum of ophthalmic manifestations in Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic, and highlights the need for thorough ocular evaluation in suspected cases.