Ischemic Optic Neuropathy Associated With Deficiency of Adenosine Deaminase 2 Enzyme

Deficiency of adenosine deaminase 2 enzyme (DADA2) is a monogenic, multi-organ disease caused by deficiency of the adenosine deaminase 2 enzyme (ADA2)1. Patients can present with intermittent fever, rash, vasculitis, lacunar strokes and hypertension2, 3. Rare ocular manifestations have included uveitis, diplopia, retinal artery occlusion, and optic neuritis2, 3, 5. Vasculitis of the temporal artery mimicking giant cell arteritis has been described in a child4. The pathogenesis is thought to be from ischemia secondary to autoinflammation5. We describe a young male who presented with a steroid responsive right optic neuropathy and subsequently, left internuclear ophthalmoplegia that mimicked demyelinating disease, but was caused by ischemic vasculopathy from ADA2 deficiency.