Introduction and importance: Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. During the past decade, DADA2's clinical spectrum has expanded significantly as the number of reported cases has increased.
Case presentation: A 5-year-old boy with DADA2 who experienced sudden onset left-sided vision loss due to unilateral central retinal artery occlusion. The patient had a history of recurrent fever and arthralgia with high inflammatory markers (C-reactive protein and erythrocyte sedimentation rate). Brain MRI showed mild limbic encephalitis, and MRA was normal. His gene sequencing results demonstrated substitutions mutation in ADA2, and the diagnosis of DADA2 was eventually confirmed.
Clinical discussion: Central retinal artery occlusion (CRAO) in paediatrics is a very rare condition. Typically, DADA2 presents in childhood as systemic inflammation, vasculitis, humoral immunodeficiency, and/or haematologic abnormalities. The most common phenotype described in the literature is vasculitis, which typically affects the skin and central nervous system, but other systems can also be affected. Ophthalmic manifestations are less common and highly variable.
Conclusions: DADA2 manifests rarely with central retinal artery occlusion; therefore, physicians should be aware of this manifestation.
Keywords: ADA2 deficiency; ADA2 mutation; case report; central retinal artery occlusion.
Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.