Retinoblastoma: biology, presentation, and current management

Abstract

Retinoblastoma is an uncommon ocular tumor of childhood which accounts for 5% of childhood blindness. It serves as a prototype for understanding the genetics of childhood cancer. The identification of the retinoblastoma gene has provided an explanation for the differing features of hereditary and nonhereditary retinoblastoma, as well as the potential for secondary malignancies in the hereditary cases. Management decisions are based upon the potential for useful vision, and the extent of disease including whether one or both eyes are involved. As nearly all patients present with disease confined to the globe, local control is excellent and survival exceeds 85%. Goals of management are cure of the disease, preservation of vision, and early detection and treatment of secondary malignancies in the genetically susceptible group.