VEXAS- NEWLY REPORTED SYNDROME WITH OCULAR MANIFESTATIONS: CASE REPORT
Journal: Harefuah
Published:
Abstract
VEXAS syndrome (VEXAS - Vascular E, X-linked, A Autoinflammatory, S Somatic) is an adult-onset autoinflammatory disease caused by a somatic mutation in the E1 enzyme of the ubiquitin, encoded by the UBA1 gene, primarily affecting males. The syndrome is typically accompanied by hematologic disorders, mainly myelodysplastic syndrome. Additionally, it includes systemic manifestations such as lung nodules inflammation (alveolitis), recurrent infections, systemic fever, sinus and ear inflammations, and skin rashes. In this article, we present a case of a patient diagnosed with VEXAS syndrome following ocular involvement. Furthermore, we will review ocular manifestations described in the literature.
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