Neuro-Ophthalmic Manifestations of Acute Leukemia

Abstract

Background: 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. Methods: 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.Results: 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.Conclusions: 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.

Ophthalmic Manifestations of Newly Diagnosed Acute Leukemia Patients in a Tunisian Cohort

“…Due to their correlation with poor prognosis, an appropriate change in therapeutic regimen is often required. 14 Leukemic cells can infiltrate all orbital structures. 15 In the series of Gawai et al, the most common primary orbital manifestation was exophthalmos (42.85%).…”

Recurrence of Lymphoblastic Leukemia Manifesting as Bilateral Optic Disk Neovascularization During Complete Clinical Remission--Case Report

“…Optic nerve infiltration may be induced by leukemic cells to play a causative role in visual decline. The optic nerve can reveal malignant cell invasion of the CNS, which occurs more frequently in acute than chronic leukemia [1,5]. Optic nerve infiltration can occur with lymphocytic or myelogenous leukemia as an early or late sequel [4,7].…”

“…The pathogenesis of optic nerve edema is not fully understood, but this study maybe serve as obstruction of venous outflow by perivascular leukemic cells [8]. Retrolaminar leukemic invasion or by direct optic infiltration of the optic nerve head leading to increase in vascular permeability may also contribute to optic disk edema [1,9]. It has been suggested that leukemic retinopathy may indicate aggressive disease and poor prognosis [1].…”

“…Retrolaminar leukemic invasion or by direct optic infiltration of the optic nerve head leading to increase in vascular permeability may also contribute to optic disk edema [1,9]. It has been suggested that leukemic retinopathy may indicate aggressive disease and poor prognosis [1].…”

“…Leukemic retinopathy includes dilated and tortuous vessels, intraretinal hemorrhage, white-centred hemorrhage (roth spots) and serous retinal detachment (SRD). These complications usually occur when patients present with clinical and hematological symptoms, and are less common during complete remission [1,2]. The swollen disk due to infiltrative optic neuropathy has been reported in literature [3][4][5].…”