Three presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States. (2nd January 2018)

• Record Type: Journal Article
• Authors: Kim, Jonathan W; Jacobsen, Bradley H.; Ko, Marcus; Lee, Diana K; Jubran, Rima F; Berry, Jesse L
• Is Part Of: Ophthalmic genetics. Volume 39:Number 1(2018)
• Page Start: 115
• Page End: 119
• Publication Date: 2018-01-02
• Subjects: Child Health (pediatrics) -- diagnostic tests/investigation -- eye (globe) -- neoplasia -- pathology; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2017.1368089
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Background: Patients with intraocular retinoblastoma who present with central nervous (CNS) disease at diagnosis is very rare in developed countries. Methods: Herein, we report a review of patients with intraocular retinoblastoma diagnosed with concurrent CNS disease in the United States between January 2011 and June 2013. Results: Three patients were identified in this review. The first case is a 2-year old male who presented with unilateral Group E retinoblastoma, optic nerve infiltration to the orbital apex, and a suprasellar mass. The second case is a 5-month old female with bilateral retinoblastoma, who had no optic nerve invasion, but demonstrated a temporal lobe lesion that was biopsy-proven to be metastatic retinoblastoma. The third case is a 10-month old girl with bilateral retinoblastoma who presented with a sellar mass and no evidence of optic nerve invasion in the enucleated Group E eye. Conclusions: Although rare in developed countries, patients with intraocular retinoblastoma can present with a spectrum of CNS findings at the time of diagnosis. Magnetic resonance imaging of the brain and orbits is a critical component of the staging evaluation.