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A Pediatric Patient With an Asymptomatic, Unilateral Retinal Mass

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

A 4-year-old girl was referred for further evaluation of an asymptomatic, unilateral retinal mass identified by an optometrist on a routine vision screening examination. Her medical history was unremarkable. Her immunizations were up to date, and she had had an uncomplicated prenatal and delivery course. Her ocular history and family history were unremarkable. On examination, the patient’s visual acuity was 20/25 OU and pupillary responses and intraocular pressures were normal. The anterior segments were normal, the lenses were clear, and there was no inflammation in either eye. On a dilated fundus examination, the vitreous was clear bilaterally. A single, superonasal, white retinal mass with no visible calcification or subretinal fluid was present in the right eye (approximately 2.5 disc diameters away from the optic nerve), with associated retinal pigment epithelium changes at the edge of the lesion (Figure 1) and a normal optic disc and posterior pole. The left posterior segment was normal.

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Unilateral group B retinoblastoma

B. Plan an urgent examination under anesthesia, ultrasonography, and magnetic resonance imaging (MRI).

The differential diagnosis includes retinoblastoma, retinocytoma, astrocytic hamartoma, toxocara granuloma, or toxoplasmosis. Retinoblastoma must be ruled out in any child with leukocoria or a posterior segment mass. An examination under anesthesia (choice B) is needed for a scleral depressed examination, ultrasonography (because a calcified retinal tumor is pathognomonic), and MRI with contrast to assess the eyes, optic nerves, orbits, and brain. A uveitis workup (choice A) is inappropriate because the patient had no intraocular inflammation, and this approach does not further investigate the mass. Imaging for tuberous sclerosis (choice C) is not indicated, because the lesion is more concerning for retinoblastoma than astrocytic hamartoma, which in young patients usually presents with gray-white or translucent, noncalcified retinal lesions. Clinical observation (choice D) is inappropriate for a potentially neoplastic posterior segment mass.

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Article Information

Corresponding Author: Armin R. Afshar, MD, MBA, MAS, Department of Ophthalmology, University of California, San Francisco, 10 Koret Way, K-304, PO Box 0730, San Francisco, CA 94143 (armin.afshar@ucsf.edu).

Published Online: September 24, 2020. doi:10.1001/jamaophthalmol.2020.2040

Conflict of Interest Disclosures: None reported.

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

References
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