Ocular and Orbital Manifestations in VEXAS Syndrome

Abstract

Abstract Background VEXAS (V- vacuoles, E- E1 enzyme, X- X-linked, A- autoinflammatory, S- somatic) is an adult onset hematoinflammatory disease, resulting from somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. It is frequently accompanied by myelodysplastic syndrome (MDS). The purpose is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical center Methods A retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical center over two years. Results Eight patients were identified with VEXAS. In six patients, the diagnosis was confirmed by genomic sequencing. Two patients, were identified based on their phenotype. All patients were males. The mean age at diagnosis was 78.7 years. In two patients, the ocular manifestation was the presenting symptom for VEXAS. Seven patients (87.5%) had history of MDS. Systemic inflammation manifestations include: skin rash (n=5), recurrent fevers (n=2), relapsing polychondritis (n=2), pleuritis and pleural effusion (n=2), poly arthritis nodosa- PAN (n=1) and thrombophlebitis (n=1). Seven (87%) patients were presented with periorbital edema. Three patients showed orbital inflammation. Dacryoadenitis was observed in two patients, and extraocular muscle (EOM) myositis was detected in two patients. Four patients demonstrated ocular inflammation such as: episcleritis, scleritis and anterior uveitis. Conclusion ocular manifestations in VEXAS include orbital inflammation, dacryoadenitis, myositis, uveitis, scleritis, episcleritis and periorbital edema. We recommend that in old male patients, with history of hematological disorder, presenting with ocular symptom, VEXAS investigation should be taken into consideration.