Neuro-Ophthalmic Manifestations of Acute Leukemia

Ophthalmic involvement in acute leukemia is common, with 36% of patients having ophthalmic involvement at the time of diagnosis. However, neuro-ophthalmic involvement is relatively rare. We present a characterization of neuro-ophthalmic findings in patients with acute leukemia and discuss the implications of these findings on patient management and prognosis.

We performed a retrospective review of cases of acute leukemia with central nervous system (CNS) involvement and neuro-ophthalmic manifestations that were evaluated at the Wilmer Eye Institute between January 2013 and September 2019. Data collected included demographic information, leukemia details, results of diagnostic testing, and features of associated neuro-ophthalmic manifestations.

Twelve patients with mean age 42 years (range 9-65, median 39) were included. Seven (58%) patients were men and 5 (42%) women. Eight (67%) were diagnosed with acute myeloid leukemia and 4 (33%) with acute lymphoid leukemia. Neuro-ophthalmic findings included 4 patients with isolated sixth nerve palsies, 2 with multiple cranial nerve palsies, 2 with orbital lesions with proptosis, 4 with optic disc swelling, and 1 with isolated fourth nerve palsy. Five (42%) neuro-ophthalmic presentations were associated with known CNS disease, 3 (25%) were associated with active disease but heralded the discovery of CNS involvement, 3 (25%) were the presenting features of relapse, and 1 (8%) led to the original leukemia diagnosis. Neuroimaging showed 4 with leptomeningeal enhancement, 4 with cranial nerve enhancement/thickening, 3 with optic nerve/sheath enhancement, 1 with lytic lesion of bone, 1 with soft tissue mass, and 1 with cytotoxic brain edema. One case had normal neuroimaging. Overall, patients had a poor prognosis, with 7 patients dying from leukemia or its complications and only 1 achieving a sustained remission. In 58% of the cases in our series, the discovery of neuro-ophthalmic leukemic involvement directly led to a change in leukemia treatment.

Neuro-ophthalmic manifestations of leukemia may occur as presenting features of diagnosis, relapse, or CNS involvement, and portend a poor prognosis. Detection of neuro-ophthalmic involvement often triggers a prompt change in management. Therefore, familiarity with potential neuro-ophthalmic presentations of acute leukemia may avoid delayed diagnosis, and resultant inadequate treatment, of primary disease, relapse, or CNS involvement.