Leukemic optic neuropathy is a rare entity that is characterized as optic nerve dysfunction resulting from direct infiltration of neoplastic leukocytes. It is an indicator of central nervous system involvement, and it is a neuro-ophthalmic and oncologic emergency that warrants immediate intervention. Here, we present a case of a pediatric patient with bilateral optic nerve infiltration in the setting of active systemic leukemia. While her clinical picture was very suggestive of an infiltrative optic neuropathy secondary to leukemia, a review of the literature suggests that most leukemic optic neuropathies are diagnostically challenging. It is much more common for optic nerve infiltration to present during a relapse of leukemia, rather than during the initial diagnosis. However, unlike in the initial diagnosis, a patient’s blood work is often negative for malignancy, and he or she often does not present with other systemic symptoms suggestive of the disease. While neuro-imaging and lumbar puncture can aid in the diagnosis, these tools oftentimes yield false negative results. Optic nerve biopsy is usually reserved in inconclusive cases when all other diagnostic modalities are futile; the procedure, however, delays treatment and poses a risk of visual compromise, making it a very controversial technique. Regardless of the diagnostic process, leukemic optic neuropathy must be confirmed quickly and correctly in order to expedite treatment, and thus preserve vision and spare mortality.
Presentation Date: 12/16/2021
Issue Date: 01/07/2022
Continuing Medical Education (CME)