Diagnosis of Bilateral Retinocytoma in an Adolescent Patient Using Multimodal Imaging and Genetic Testing

A 12-year-old male presented for evaluation of asymptomatic bilateral retinal tumors. Both eyes contained whitish-gray retinal tumors with intralesional calcifications. Enhanced depth optical coherence tomography and high-resolution (20 MHz) ultrasonography narrowed the differentiation diagnosis to astrocytic hamartoma versus retinocytoma. Genetic testing of a saliva sample was negative for tuberous sclerosis complex but positive for a novel mutation in the retinoblastoma gene (RB1). Taken together, these findings were consistent with a diagnosis of bilateral retinocytoma in a patient with germline RB1 mutation. This case demonstrates the importance of combining clinical imaging and genetic testing in the evaluation of bilateral intraocular tumors. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:812-814.].