Resumo

• 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. Enucleation may be required.