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
Murray Ocular Oncology and Retina
TGM is an author of a number of references cited in this monograph.
Bascom Palmer Eye Institute
VMV is an author of a reference cited in this monograph.
Dr Timothy G. Murray and Dr Victor M. Villegas would like to gratefully acknowledge Dr Amy C. Schefler, a previous contributor to this monograph, and Dr Steven Houston, III, MD for his contribution to the monograph. ACS is an author of a number of references cited in this monograph. SH declares that he has no competing interests.
Pharmaceutical Clinical & Scientific Affairs
Bausch & Lomb
SS declares that she has no competing interests.
Professor and Head of Pediatric Ocular Oncology Unit
Jules Gonin Eye Hospital
FM declares that he has no competing interests.
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