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

2021 ◽  
Vol 8 ◽  
Author(s):  
Yufeng Xu ◽  
Yi Shan ◽  
Yin Hu ◽  
Jing Cao ◽  
Yijie Wang ◽  
...  

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.

2021 ◽  
Vol 33 (2) ◽  
pp. 194
Author(s):  
Sandip Sarkar ◽  
AmitKumar Deb ◽  
Nithya Rathinam ◽  
Sangaraju Suneel ◽  
Malvika Mani ◽  
...  

2000 ◽  
Vol 10 (2) ◽  
pp. 177-179 ◽  
Author(s):  
C. Peris Martínez ◽  
J.A. Aviñó Martínez ◽  
M. Díaz-Llopis ◽  
E. España Gregori ◽  
J.L. Menezo ◽  
...  

Purpose To describe a case of branch retinal vein occlusion (BRVO) in a patient who tested positive for the 20210 A allele of the prothrombin (PT) gene. Methods A 48-year-old man had visual loss in the right eye secondary to BRVO confirmed by ophthalmoscopy and fluorescein angiography. His medical history was not remarkable for common risk factors for retinal occlusive diseases. Results Laboratory tests for hypercoagulability were positive for PT 20210 A variant. The patient's family tested negative for the PT variant. Conclusions Laboratory tests for coagulopathy, including the PT 20210 A variant, should be added to the examination of patients with central or BRVO, especially if most common risk factors for thrombosis have been excluded.


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