UCLA Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Curr Opin Ophthalmol. 2020 Nov;31(6):532-537. doi: 10.1097/ICU.0000000000000705.
This article summarizes the systemic and ocular manifestations of Blau syndrome, its genetic basis, and reviews recently published literature.
A large multicenter prospective case series is underway, with 3-year preliminary results indicating the prevalence of uveitis, clinical characteristics and early data on its visual prognosis. Case reports have demonstrated the successful use of newer biologic agents.
Blau syndrome is an exceedingly rare autoinflammatory disorder with skin, joint and eye manifestations. It is caused by autosomal dominant mutations of the NOD2 protein. Eye involvement is typically a chronic bilateral granulomatous iridocyclitis, often with multifocal choroiditis in the posterior segment. Treatment starts with topical and systemic steroids and often requires antimetabolites or biologic agents.
本文总结了 Blau 综合征的全身和眼部表现、遗传基础，并复习了近期文献。
一项大型多中心前瞻性病例系列研究正在进行中，3 年的初步结果表明葡萄膜炎的患病率、临床特征和对其视觉预后的早期数据。病例报告已经证明了新型生物制剂的成功应用。
Blau 综合征是一种极其罕见的自身炎症性疾病，具有皮肤、关节和眼部表现。它是由 NOD2 蛋白的常染色体显性突变引起的。眼部受累通常为慢性双侧肉芽肿性虹膜睫状体炎，常伴有后段多灶性脉络膜炎。治疗从局部和全身类固醇开始，经常需要使用抗代谢物或生物制剂。
