Two Cases Presenting With Unilateral Adduction Deficit Associated With Human Adenosine Deaminase 2 Deficiency

Deficiency of human adenosine deaminase 2 (DADA2) is an auto-inflammatory inborn error of immunity caused by biallelic deleterious mutations in the gene encoding ADA2. The purpose of this article is to raise awareness among ophthalmologists and pediatricians to consider DADA2 as a possible diagnosis for patients with acute onset of diplopia. The authors describe two pediatric patients who presented with double vision due to uni-lateral adduction deficit, and discuss the importance of recognizing this clinically as an ophthalmologist. If a child presents with a sudden eye movement abnormality, ophthalmologists must be aware of the possibility of an ischemic insult due to an underlying genetic disorder (eg, DADA2), especially in patients with a positive familial history or associated clinical signs such as a personal history of characteristic skin lesions or paresis of other cranial nerves. Given the multi-organ involvement in this disorder, a multi-disciplinary approach is crucial to have a timely diagnosis and to treat this rare disorder appropriately. [J Pediatr Ophthalmol Strabismus. 2021;58(4):e22-e26.].

Publication year:2021

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BOF-publication weight:0.1

CSS-citation score:1

Authors from:Higher Education

Accessibility:Open