PDF(Pubmed)
Abstract：
Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet\'s disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still\'s disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome.
摘要：
自身炎性疾病包括具有遗传原因的病症以及与多基因或多因素相关的复杂综合征。他们中的许多人都有眼睛受累，不同程度和严重程度。本综述涵盖了最常见的单基因自身炎性疾病中的眼科病变，包括FMF（家族性地中海热），TRAPS（TNF受体相关周期性综合征），CAPS（冷冻比林相关的周期性综合征），布劳综合征,DADA2（缺乏腺苷脱氨酶2），DITRA（白细胞介素-36受体拮抗剂缺乏），其他单基因疾病，包括几种泛素病，干扰素病,和最近描述的ROSAH（视网膜营养不良，视神经水肿,脾肿大,无汗症,和头痛）综合征，和VEXAS（空泡，E1酶，X-linked,自身炎症,躯体)综合征。在多基因自身炎性疾病中，眼睛表现已经在Behçet病进行了回顾，PFAPA（定期发烧，口疮性口炎，咽炎和颈腺炎）综合征，静病和自身炎症性骨病，其中包括CRMO（慢性复发性多灶性骨髓炎）和SAPHO（滑膜炎，痤疮,脓疱病,骨肥大和骨炎）综合征。
