Most common intraocular malignancy in children, with approximately 250 to 350 new cases per year in the US.
90% of all retinoblastoma cases are diagnosed by 3 years of age.
Disease can be unilateral or bilateral.
Most common presenting sign is leukocoria (white papillary reflex), which can often be seen in photographs.
In 30% to 40% of cases, the disease is associated with a germline mutation in the RB1 gene, which carries an associated increased risk of secondary nonocular tumors.
10-year survival is 99% in resource-rich countries. Patients in resource-poor countries typically present with extraocular extension or metastatic disease with a dismal prognosis.
Treatment typically involves chemotherapy (systemic or intra-arterial) plus focal therapy with laser or cryotherapy. In advanced cases, enucleation may be required.
History and exam
Timothy G. Murray, MD, MBA, FACS
Murray Ocular Oncology and Retina
TGM is president-elect of the American Society for Retina Specialists and has served on advisory panels for the FDA, Alcon Surgical, and Regeneron. TGM is an author of a number of references cited in this topic.
Victor M. Villegas, MD
Department of Ophthalmology
University of Puerto Rico
Department of Surgery
Ponce Health Sciences University School of Medicine
Bascom Palmer Eye Institute
University of Miami
VMV is an author of a reference cited in this topic.
Dr Timothy G. Murray and Dr Victor M. Villegas would like to gratefully acknowledge Dr Amy C. Schefler, a previous contributor to this topic, and Dr Steven Houston, III, MD for his contribution to the topic. ACS is an author of a number of references cited in this topic. SH declares that he has no competing interests.
Susan Schneider, MD
Pharmaceutical Clinical & Scientific Affairs
Bausch & Lomb
SS declares that she has no competing interests.
Francis Munier, MD
Professor and Head of Pediatric Ocular Oncology Unit
Jules Gonin Eye Hospital
FM declares that he has no competing interests.
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