Uveal involvement as the presenting sign of recurrence of systemic B-cell lymphoma: a case report and description of biopsy technique.

PMID 40976558 | DOI 10.1016/j.jaapos.2025.104651 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2025

The uvea is a rare site for primary or recurrent lymphoma, but it is a potentially sight- and life-threatening pediatric presentation. The differential diagnosis is broad, and tissue biopsy is necessary for confirmation and appropriate management. We present the first published case of relapsed atypical B-cell lymphoma with KMT2A gene rearrangement involving the iris. Despite a high index of clinical suspicion of recurrent systemic lymphoma, biopsy of aqueous was nondiagnostic. The child required further aqueous sampling and iris biopsy, which confirmed the diagnosis and allowed for appropriate treatment. Pearls for acquiring a representative aqueous biopsy, as well as a surgical video describing aqueous and iris biopsy technique are provided.