Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.

Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder associated with systemic vasculitis and bone marrow failure. Reported ophthalmic findings in DADA2 include optic neuritis, retinal artery occlusion, uveitis, and optic atrophy. We report the case of a child found to have bilateral cataracts.

Case report: A three-year-old recent immigrant from Mexico with a diagnosis of DADA2 and transfusion-dependent anemia was referred to ophthalmology to screen for deferasirox-associated retinopathy in the setting of hemochromatosis. He was incidentally found to have bilateral posterior subcapsular cataracts with no other ophthalmic abnormalities. The child's lab findings were significant for chronic hyperferritinemia, and his history was significant for over a year of oral prednisone use in Mexico.

Conclusions: This is the first reported case of cataracts in a child with DADA2. While DADA2 is an autoinflammatory disorder, this child's lack of uveitis suggests a non-inflammatory etiology. Hyperferritinemia is a known cause of cataracts and is common in DADA2, but the child's history of oral steroid use in Mexico could also explain his cataracts. As pediatric cataracts have not otherwise been reported in DADA2, ophthalmologists should be aware of this possibility, especially in children with hyperferritinemia or a history of steroid use.