Retinoblastoma

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.

The most common malignant intraocular tumor in children.[1]Villegas VM, Hess DJ, Wildner A, et al. Retinoblastoma. Curr Opin Ophthalmol. 2013 Nov;24(6):581-8 http://www.ncbi.nlm.nih.gov/pubmed/24100372?tool=bestpractice.com [2]National Organization for Rare Disorders. Rare diseases database. Retinoblastoma. 2017 [internet publication]. https://rarediseases.org/rare-diseases/retinoblastoma It can be unilateral or bilateral, familial or spontaneous, and in 30% to 40% of cases is accompanied by a germinal mutation in the RB1 gene.[3]Schefler AC, Abramson DH. Retinoblastoma: what is new in 2007-2008. Curr Opin Ophthalmol. 2008 Nov;19(6):526-34. http://www.ncbi.nlm.nih.gov/pubmed/18854698?tool=bestpractice.com It often causes an exudative retinal detachment with vitreous seeding.