Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.
Eye Clinic, Department of Public Health, Federico II University, Naples, Italy.
Photodiagnosis Photodyn Ther. 2021 Jun;34:102278. doi: 10.1016/j.pdpdt.2021.102278. Epub 2021 Apr 1.
Blau syndrome (BS) is a rare granulomatous auto-inflammatory disease, characterized by the classic clinical triad of joints, skin and ocular involvements. Ocular manifestation usually consists in a bilateral insidious chronic anterior uveitis with a potential evolution to panuveitis. We describe the case of two siblings, an 8-years old female and a 5-years old male, with a diagnosis of BS, evaluated by Anterior Segment-Optical Coherence Tomography (AS-OCT). In the female patient, slit-lamp examination revealed bilateral anterior granulomatous uveitis and inflammatory sequelae. AS-OCT revealed high intensity reflective layers in the anterior cornea, hyperreflective dots both in the aqueous humor and in the posterior corneal surface. In the male, no signs of inflammation were detected both on slit-lamp examination and AS-OCT scans. AS-OCT is a valuable, non-invasive tool that could improve the diagnosis of ocular involvement, better characterize and follow-up corneal alterations and anterior segment features in pediatric patients with BS.
布卢综合征（BS）是一种罕见的肉芽肿性自身炎症性疾病，其特征为关节、皮肤和眼部受累的经典三联征。眼部表现通常为双侧隐匿性慢性前葡萄膜炎，有发展为全葡萄膜炎的潜在趋势。我们描述了两例 BS 患者，为 8 岁女性和 5 岁男性，通过眼前节光学相干断层扫描（AS-OCT）进行评估。在女性患者中，裂隙灯检查显示双侧前葡萄膜炎和炎症后遗症。AS-OCT 显示前角膜有高强度反射层，前房和后角膜表面有高反射点。在男性患者中，裂隙灯检查和 AS-OCT 扫描均未发现炎症迹象。AS-OCT 是一种有价值的非侵入性工具，可以提高对眼部受累的诊断，更好地描述和随访 BS 患儿的角膜改变和前节特征。
