Quiz

Neuro-ophthalmology

An 18-Month-Old With a White Optic Nerve Head Mass

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

1 Credit CME

JAMA Ophthalmology

November 1, 2019

JAMA Ophthalmology Clinical Challenge

Article Information and Disclosures

Katherine S. Peters, MD^1,2; Anthony B. Daniels, MD, MSc^1,2,3 Author Affiliations

¹Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee
²Vanderbilt University School of Medicine, Vanderbilt University, Nashville, Tennessee
³Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, Tennessee

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An 18-month-old girl with an unremarkable medical history was referred to ocular oncology from pediatric ophthalmology for an intraocular mass near the optic nerve. Her parents noticed the left eye turning out for the past year. On examination, she fixed and followed with her right eye but not with the left, with 5.0-diopter exophoria at near in the left eye. Penlight examination results showed left leukocoria. Intraocular pressure and motility were normal bilaterally. On subsequent examination under anesthesia, the left optic nerve was obscured by a whitish mass. While the optic nerve itself was obscured, a pigmented crescent could be seen surrounding it (Figure, A). Ultrasonography results demonstrated an elevated retinal mass overlying an excavated optic nerve head. A small focus of hyperechogenicity was noted at the optic nerve head, consistent with calcium (Figure, B). Fluorescein angiography results demonstrated staining of the central whitish mass, which was obscuring the underlying retinal vessels. On fluorescein angiography results, no vessels were seen within the central whitish mass itself.

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Morning glory disc anomaly

B. Observation for the eye and MRI and magnetic resonance angiography of the head

The differential diagnosis of a white juxtapapillary mass in a young child includes retinoblastoma, retinal astrocytoma, and glial masses. Retinoblastoma presents as 1 or more retinal masses and is often associated with calcifications and subretinal or vitreous seeds.¹ Large vessels generally dive into the tumor and fine intratumoral vessels can be seen. If retinal astrocytoma was suspected, a skin examination for other stigmata of tuberous sclerosis (eg, ash leaf spots and shagreen patches) should be performed. Genetic testing for the TSC1 gene (chromosome 9) and TSC2 gene (chromosome 16) can be informative. However, congenital and acquired astrocytomas present as whitish-gray masses within the retinal nerve fiber layer with fine intratumoral vessels.¹ Diagnostic enucleation is indicated for medulloepithelioma, usually found in the ciliary body, for which a biopsy is contraindicated. Primary therapeutic enucleation may be indicated for retinoblastoma invading the optic nerve, for which orbital MRI can be helpful, along with brain MRI to assess for “trilateral” disease with pinealoblastoma. However, this case is most consistent with morning glory disc anomaly (MGDA).

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Article Information

Corresponding Author: Anthony B. Daniels, MD, MSc, Vanderbilt Eye Institute, Vanderbilt University Medical Center, 2311 Pierce Ave, Nashville, TN 37232 (anthony.b.daniels@vumc.org).

Published Online: September 26, 2019. doi:10.1001/jamaophthalmol.2019.3798

Conflict of Interest Disclosures: Dr Daniels reported grants from the National Institutes of Health/National Eye Institute, Research to Prevent Blindness, the Alcon Research Institute, and Spectrum Pharmaceuticals. No other disclosures were reported.

Funding/Support: This work was supported by a Career Development Award from Research to Prevent Blindness Foundation (Dr Daniels), National Eye Institute grant 5K08EY027464-02 (Dr Daniels), and an unrestricted departmental grant from Research to Prevent Blindness to the Vanderbilt Department of Ophthalmology and Visual Sciences.

Role of the Funder/Sponsor: The funding organizations had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

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

References

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An 18-Month-Old With a White Optic Nerve Head Mass

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