DeSouza Philip J, Shah Rajiv
Department of Ophthalmology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Am J Ophthalmol Case Rep. 2019 Mar 29;14:92-94. doi: 10.1016/j.ajoc.2019.03.006. eCollection 2019 Jun.
To describe a case of Blau panuveitis, characterized on both portable and tabletop wide-field fluorescein angiography, which resolved on systemic immunosuppression.
A 5-year-old female presented with bilateral eye pain, redness, and decreased visual acuity due to panuveitis and had a history of arthritis, tenosynovitis, and dermatitis. Similar ocular and systemic findings in the patient's mother and maternal half-brother prompted genetic testing that confirmed the diagnosis of the rare Blau syndrome. Portable Retcam and tabletop Optos wide-field fluorescein angiography congruently demonstrated retinal vascular and peripapillary leakage. The uveitis dramatically resolved after the addition of adalimumab to methotrexate. Quiescence was maintained with the substitution of infliximab for adalimumab.
To our knowledge, we are first to characterize Blau panuveitis retinal findings on wide-field fluorescein angiography and with the use of two different photography systems. Additionally, this report underscores the salient clinical findings of a rare disorder and suggests that robust systemic immunosuppression can effectively treat refractory ocular inflammation.
描述一例Blau全葡萄膜炎病例，该病例在便携式和台式广角荧光素血管造影上均有特征性表现，经全身免疫抑制治疗后病情缓解。
一名5岁女性因全葡萄膜炎出现双眼疼痛、发红及视力下降，并有关节炎、腱鞘炎和皮炎病史。患者母亲和同父异母哥哥有类似的眼部和全身表现，促使进行基因检测，确诊为罕见的Blau综合征。便携式Retcam和台式Optos广角荧光素血管造影均显示视网膜血管及视乳头周围渗漏。在甲氨蝶呤基础上加用阿达木单抗后，葡萄膜炎显著缓解。用英夫利昔单抗替代阿达木单抗后病情维持缓解。
据我们所知，我们首次在广角荧光素血管造影及使用两种不同摄影系统的情况下，对Blau全葡萄膜炎的视网膜表现进行了特征描述。此外，本报告强调了一种罕见疾病的显著临床发现，并表明强有力的全身免疫抑制可有效治疗难治性眼部炎症。
