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Background Optic neuropathy in the context of leukemia or lymphoma has a broad differential diagnosis, including infiltration, infection, inflammation, compression, and medication effects. Confirming the underlying etiology in a timely manner is crucial as, while infiltration carries a poor prognosis, treatment modalities can have serious consequences themselves. Methods A review of the literature was conducted for cases of isolated optic neuropathy in the context of leukemia or lymphoma, in which the underlying etiology remained unclear following initial clinical examination and neuroimaging. Clinical, radiological, and pathological characteristics of the cases are summarized. Results Ninety-two cases meeting inclusion criteria were identified. Leukemic or lymphomatous infiltration was the presumed diagnosis in 72% of the reports, indicating this is the most likely etiology in such cases. The remaining reports were attributed to inflammation, infection, or drug toxicity. For illustrative purposes, the previously unpublished case of an 11-year-old girl with remitted T lymphoblastic lymphoma is presented. She suffered recurrence in the form of isolated left optic nerve infiltration that required transconjunctival biopsy to confirm diagnosis. Conclusions Optic nerve infiltration by leukemia or lymphoma requires both diagnostic certainty and urgent management. Recommendations are made for a step-wise, yet rapid investigative approach that may ultimately require biopsy of the optic nerve.

Optic neuropathy in the context of leukemia or lymphoma: diagnostic approach to a neuro-oncologic emergency