Diagnosis of bilateral retinocytoma in an adolescent patient using multimodal imaging and genetic testing

Manuel Paez-Escamilla, Scott D. Walter, Kamalesh J. Ramaiya, J. William Harbour

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)812-814
Number of pages3
JournalOphthalmic Surgery Lasers and Imaging Retina
Volume49
Issue number10
DOIs
StatePublished - Oct 1 2018

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

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