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Background We describe a case of an atypical presentation of leukemic optic nerve infiltration. Case presentation A patient with acute lymphoblastic leukemia (ALL) in remission suffered from sudden right eye vision loss. At the time of presentation, the affected eye presented with an afferent pupillary defect, while the fundus examination was normal. A complete work up of the patient revealed no signs of ALL relapse, but MR imaging of the optic nerve showed contrast agent uptake consistent with optic nerve infiltration. The patient developed a fulminant ALL relapse and died shortly after. Histology of the optic nerve showed a leukemic infiltration with CD10 positive cells. Conclusions This is the first report of an ALL relapse in the optic nerve without intraocular signs. Patients’ medical history should therefore be taken into consideration in patients with unclear vision loss.

Case report: atypical, unilateral optic nerve infiltration as the first sign of acute lymphoblastic leukemia (ALL) relapse