Xu Yufeng, Shan Yi, Hu Yin, Cao Jing, Wang Yijie, Lou Lixia, Ye Panpan
Eye Center, College of Medicine, The Second Affiliated Hospital of Zhejiang University, Zhejiang, China.
Department of Neurology, College of Medicine, The Second Affiliated Hospital of Zhejiang University, Zhejiang, China.
Front Med (Lausanne). 2021 Apr 29;8:642454. doi: 10.3389/fmed.2021.642454. eCollection 2021.
Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive systemic autoinflammatory disorder. We describe a rare case of an adult patient with DADA2 who presented with unilateral frosted branch angiitis (FBA) combined with branch retinal vein occlusion and panuveitis. This paper is a clinical case report. A 31-year-old male patient complained of blurred vision in his right eye for 2 days. His fundus examination showed FBA combined with branch retinal vein occlusion and panuveitis. He had a medical history of intermittent and recurrent fever, skin rash and aphthous ulcer for 5 years, and lacunar infarction for 1 month. Laboratory examinations showed hypogammaglobulinemia and mild prolonged activated partial thromboplastin time (APTT). Brain magnetic resonance imaging (MRI) revealed old lacunar infarction in the right basal ganglia and the lateral ventricle and fresh lacunar infarction in the right pons, respectively. The perivascular sheathing of FBA and macular edema were resolved after steroid administration and treatment of intravitreal anti-VEGF injection. During the period of follow-up, the patient subsequently suffered from recurrence of strokes, abnormality of coagulation function, sudden hearing loss of the left ear, and diplopia. His gene sequencing results demonstrated several deletion mutations in , and the diagnosis of DADA2 was eventually confirmed. FBA represents a very rare ocular feature of DADA2 and may in some cases be the presenting manifestation. Therefore, ophthalmologists need to be aware of this rare autoinflammatory disease.
腺苷脱氨酶2（DADA2）缺乏症是一种罕见的常染色体隐性全身性自身炎症性疾病。我们描述了一例罕见的成年DADA2患者，其表现为单侧霜样树枝状视网膜血管炎（FBA）合并视网膜分支静脉阻塞和全葡萄膜炎。本文为临床病例报告。一名31岁男性患者主诉右眼视力模糊2天。眼底检查显示FBA合并视网膜分支静脉阻塞和全葡萄膜炎。他有5年间断性反复发热、皮疹和口腔溃疡病史，1个月前有腔隙性脑梗死病史。实验室检查显示低球蛋白血症和活化部分凝血活酶时间（APTT）轻度延长。脑磁共振成像（MRI）分别显示右侧基底节和侧脑室陈旧性腔隙性脑梗死以及右侧脑桥新鲜腔隙性脑梗死。给予类固醇药物治疗和玻璃体内抗血管内皮生长因子（VEGF）注射后，FBA的血管周围鞘膜和黄斑水肿消退。在随访期间，患者随后出现中风复发、凝血功能异常、左耳突发性听力丧失和复视。他的基因测序结果显示在 中有几个缺失突变，最终确诊为DADA2。FBA是DADA2一种非常罕见的眼部表现，在某些情况下可能是首发表现。因此，眼科医生需要了解这种罕见的自身炎症性疾病。
