Abumanhal Muhammad, Ben Cnaan Ran, Leibovitch Igal
Oculoplastic Institute, Division of Ophthalmology, Tel Aviv Sourasky- Ichilov Medical Center.
Harefuah. 2025 Mar;164(3):175-178.
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.
VEXAS综合征（VEXAS——血管性、X连锁、自身炎症性、体细胞性）是一种成年起病的自身炎症性疾病，由泛素E1酶中的体细胞突变引起，该酶由UBA1基因编码，主要影响男性。该综合征通常伴有血液系统疾病，主要是骨髓增生异常综合征。此外，它还包括全身表现，如肺结节炎症（肺泡炎）、反复感染、全身发热、鼻窦和耳部炎症以及皮疹。在本文中，我们介绍了一例因眼部受累而被诊断为VEXAS综合征的患者。此外，我们将回顾文献中描述的眼部表现。
