Most common intraocular malignancy in children.
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 non-ocular tumours.
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.
Use of this content is subject to our disclaimer