Abstract：
VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS patients. The objective of this study is to further describe orbital/ocular conditions in VEXAS syndrome while investigating potential associations with other disease manifestations. In the present study, twenty-seven out of 59 (45.8 %) VEXAS patients showed an inflammatory orbital/ocular involvement during their clinical history. The most frequent orbital/ocular affections were represented by periorbital edema in 8 (13.6 %) cases, episcleritis in 5 (8.5 %) patients, scleritis in 5 (8.5 %) cases, uveitis in 4 (6.8 %) cases, conjunctivitis in 4 (6.8 %) cases, blepharitis in 3 (5.1 %) cases, orbital myositis in 2 (3.4 %) cases. A diagnosis of systemic immune-mediated disease was observed in 15 (55.6 %) cases, with relapsing polychondritis diagnosed in 12 patients. A significant association was observed between relapsing polychondritis and orbital/ocular involvement in VEXAS syndrome (Relative Risk: 2.37, 95 % C.I. 1.03-5.46, p = 0.048). Six deaths were observed in the whole cohort of patients after a median disease duration of 1.2 (IQR=5.35) years, 5 (83.3 %) of which showed orbital/ocular inflammatory involvement. In conclusion, this study confirms that orbital/ocular inflammatory involvement is a common finding in VEXAS patients, especially when relapsing polychondritis is diagnosed. This makes ophthalmologists a key figure in the diagnostic process of VEXAS syndrome. The high frequency of deaths observed in this study seems to suggest that patients with orbital/ocular involvement may require increased attention and more careful follow-up.
摘要：
VEXAS综合征是最近描述的单基因自身炎性疾病,其能够表现为广泛的器官和组织受累。在VEXAS患者中经常描述眼眶/眼部炎症表现。这项研究的目的是进一步描述VEXAS综合征的眼眶/眼病，同时调查与其他疾病表现的潜在关联。在本研究中,59例VEXAS患者中有27例(45.8%)在其临床病史期间出现炎性眼眶/眼部受累.最常见的眼眶/眼部病变以眶周水肿为代表的8例（13.6%），5例（8.5%）患者的巩膜外炎，5例（8.5%）巩膜炎，葡萄膜炎4例(6.8%)，结膜炎4例(6.8%)，3例（5.1％）眼睑炎，眼眶肌炎2例(3.4%)。15例(55.6%)诊断为全身性免疫介导疾病,12例患者诊断为复发性多软骨炎。在复发性多软骨炎和VEXAS综合征的眼眶/眼部受累之间观察到显着关联（相对风险：2.37，95％C.I.1.03-5.46，p=0.048）。在中位疾病持续时间为1.2（IQR=5.35）年后，在整个患者队列中观察到6例死亡，5例（83.3%）显示眼眶/眼部炎症受累。总之,这项研究证实，眼眶/眼部炎症受累是VEXAS患者的常见发现，特别是当复发性多软骨炎被诊断时。这使眼科医生成为VEXAS综合征诊断过程中的关键人物。在这项研究中观察到的高频率死亡似乎表明，患有眼眶/眼部受累的患者可能需要更多的关注和更仔细的随访。
