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An Atypical Case of Optic Neuropathy

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 17-year-old previously healthy girl presented with 3 months of decreased vision in the right eye associated with throbbing pain with eye movement. The patient had no history of weakness, incontinence, or severe headaches. Initial presentation was notable for hand motion visual acuity with a 2+ relative afferent pupillary defect on the right; fundus examination revealed grade IV disc edema with obscuration of all major vessels on the disc (Figure, A). A magnetic resonance image (MRI) of the brain with and without gadolinium contrast was degraded by motion and orthodontic artifact but was suggestive of optic nerve enhancement consistent with optic neuritis. Results of serology tests and cerebral spinal fluid analysis were negative for infectious and inflammatory etiologies, including syphilis, sarcoidosis, Lyme disease, viral etiologies, multiple sclerosis, and lupus.

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Pilocytic astrocytoma with anaplastic transformation

A. Transorbital biopsy of the right optic nerve for grading and immunohistochemistry

The patient’s progression was more rapid than would be expected with a typical optic pathway glioma, as optic nerve gliomas do not tend to grow as rapidly. Given the rate of aggressive progression and risk of vision loss to the left eye, the best decision is to proceed with biopsy of the right optic nerve. Complete surgical excision was not possible because of the involvement of the tumor at the chiasm; the biopsy was to evaluate the grade and immunohistochemistry of the tumor prior to starting radiation. Performing the biopsy via a transorbital (choice A) rather than transcranial route would allow radiation to start more expeditiously. Transcranial biopsy (choice B) is not preferred because of longer recovery and potential delay of radiotherapy. Chemotherapy and/or radiation prior to knowing the grade of the tumor (choice C) would not be preferred. Observation of a tumor with chiasmal involvement places the patient at significant risk for visual loss on the left side (choice D). Tumor at the chiasm, described as “masslike expansion,” would potentially threaten the entering fibers from the left optic nerve.

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Article Information

Corresponding Author: Katherine J. Williams, MD, Department of Ophthalmology, Baylor College of Medicine/Cullen Eye Institute, 1977 Butler Blvd, 2nd Floor, Houston, TX 70030 (katherine.williams@bcm.edu).

Published Online: November 18, 2021. doi:10.1001/jamaophthalmol.2021.1466

Conflict of Interest Disclosures: Dr Allen has received personal fees from Horizon Pharma. No other disclosures were reported.

Additional Contributions: We thank the patient’s mother for granting permission to publish this information.

References
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