Case Report: An Adult Patient With Deficiency of Adenosine Deaminase 2 Resembled Unilateral Frosted Branch Angiitis

Frontiers in Medicine

Yin Hu¹  Yi Shan²  Panpan Ye²  Yijie Wang²  Jing Cao²  Yufeng Xu²  Lixia Lou² 

[1] Department of Neurology, College of Medicine, The Second Affiliated Hospital of Zhejiang University, Zhejiang, China;Eye Center, College of Medicine, The Second Affiliated Hospital of Zhejiang University, Zhejiang, China;

关键词: deficiency of adenosine deaminase 2;    frosted branch angiitis;    autoinflammatory and autoimmune diseases;    retina vascular disorder;    blood coagulation factor XII;   

DOI  :  10.3389/fmed.2021.642454

来源: DOAJ

【 摘 要 】

Purpose: 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.Method: This paper is a clinical case report.Results: 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 ADA2, and the diagnosis of DADA2 was eventually confirmed.Conclusions: 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.

【 授权许可】

Unknown