An 11-year-old boy was referred to assess a retinal mass in the left eye found on his first routine ophthalmic evaluation. He reported no present or past ocular symptoms and had negative findings on a review of systems. His history included full-term birth by cesarean delivery from an uncomplicated pregnancy. He had healthy, nonconsanguineous parents.
The ocular examination showed a visual acuity of 20/20 OU with no anterior segment abnormalities. Findings of dilated fundus examination of the right eye were within normal limits. In the left eye, a white, translucent solid lesion with calcification was noticeable in the inferonasal quadrant (Figure, A). The lesion measured approximately 1.6 mm in height, exhibited mild underlying chorioretinal changes, and had associated 3 vitreous seeds (Figure, A). There were no signs of internal vascularization or vitritis. Optical coherence tomography confirmed an intraretinal location and calcified deposits within the lesion (Figure, B).
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C. Request genetic testing and monitor
Retinoma is a white-gray gelatinous retinal tumor with chalky calcification that resembles retinoblastoma but lacks aggressive intraocular or systemic behavior.1,2 Key features distinguishing retinoma from retinoblastoma include underlying chorioretinal changes, indicative of a chronic and quiescent state, and absence of vascularization or subretinal fluid.1- 4 Vitreous seeds may seldomly accompany retinomas as inactive spheres floating in the vitreous in front of the retina, carrying an uncertain clinical significance that contrasts to retinoblastoma seeds, known to represent worse disease staging and prognosis.3,5
While retinoblastoma is mainly diagnosed in the first months or years of life by the presence of leukocoria and strabismus, retinomas can be detected incidentally during fundoscopy at any age, being more commonly discovered in relatives of patients with retinoblastoma.1- 3 Indeed, molecular studies using samples from eyes with simultaneous retinoma and retinoblastoma demonstrated that the retinoma areas in these patients exhibit inactivation of both RB1 alleles similar to the retinoblastoma areas, missing the additional variant events required for full-spectrum retinoblastoma.6 For this reason, a new case of retinoma should be promptly screened for RB1 gene variation (choice C) to allow adequate patient counseling and guidance for testing of relatives.2,6 The lifelong risk for retinoma transformation into retinoblastoma in the general population has been estimated at up to 15% in 20 years.3
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Leonardo Lando, MD, Department of Ophthalmology and Visual Sciences, Princess Margaret Cancer Centre, University Health Network, University of Toronto, 610 University Ave, Toronto, ON M5G 2M9, Canada (email@example.com).
Published Online: July 14, 2022. doi:10.1001/jamaophthalmol.2022.1649
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the mother of the patient for granting permission to publish this information. We acknowledge Stephanie Kletke, MD (Department of Ophthalmology and Visual Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada), for her contribution on the literature review. Dr Kletke was not compensated for her contribution.
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