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A White Retinal Lesion With Calcification in an 11-Year-Old Boy

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

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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Retinoma

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.14 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.13 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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Article Information

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 (leonardolando23@gmail.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.

References
1.
Gallie  BL , Ellsworth  RM , Abramson  DH , Phillips  RA .  Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?   Br J Cancer. 1982;45(4):513-521. doi:10.1038/bjc.1982.87PubMedGoogle ScholarCrossref
2.
Soliman  SE , Racher  H , Zhang  C , MacDonald  H , Gallie  BL .  Genetics and molecular diagnostics in retinoblastoma—an update.   Asia Pac J Ophthalmol (Phila). 2017;6(2):197-207.PubMedGoogle Scholar
3.
Shields  CL , Srinivasan  A , Lucio-Alvarez  JA , Shields  JA .  Retinocytoma/retinoma: comparative analysis of clinical features in 78 tumors and rate of transformation into retinoblastoma over 20 years.   J AAPOS. 2021;25(3):147.e1-147.e8. doi:10.1016/j.jaapos.2020.11.024PubMedGoogle ScholarCrossref
4.
Dimaras  H , Khetan  V , Halliday  W , Héon  E , Chan  HS , Gallie  BL .  Retinoma underlying retinoblastoma revealed after tumor response to 1 cycle of chemotherapy.   Arch Ophthalmol. 2009;127(8):1066-1068. doi:10.1001/archophthalmol.2009.178PubMedGoogle ScholarCrossref
5.
Gallie  BL , Soliman  S . Retinoblastoma. In: Lambert  B , Lyons  C , eds.  Taylor and Hoyt’s Paediatric Ophthalmology and Strabismus. 5th ed. Elsevier; 2016.
6.
Dimaras  H , Khetan  V , Halliday  W ,  et al.  Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma.   Hum Mol Genet. 2008;17(10):1363-1372. doi:10.1093/hmg/ddn024PubMedGoogle ScholarCrossref
7.
Soliman  SE , VandenHoven  C , MacKeen  LD , Héon  E , Gallie  BL .  Optical coherence tomography-guided decisions in retinoblastoma management.   Ophthalmology. 2017;124(6):859-872. doi:10.1016/j.ophtha.2017.01.052PubMedGoogle ScholarCrossref
8.
Nadiarnykh  O , McNeill-Badalova  NA , Gaillard  MC ,  et al.  Optical coherence tomography (OCT) to image active and inactive retinoblastomas as well as retinomas.   Acta Ophthalmol. 2020;98(2):158-165. doi:10.1111/aos.14214PubMedGoogle ScholarCrossref
9.
Shields  CL , Say  EAT , Fuller  T , Arora  S , Samara  WA , Shields  JA .  Retinal astrocytic hamartoma arises in nerve fiber layer and shows “moth-eaten” optically empty spaces on optical coherence tomography.   Ophthalmology. 2016;123(8):1809-1816. doi:10.1016/j.ophtha.2016.04.011PubMedGoogle ScholarCrossref
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