Abstract
Retinoblastoma (Rb) is the most common pediatric ocular malignancy and accounts for 2% of all childhood cancers. Rb is initiated by a mutation of the RB1 tumor suppressor gene and occurs in 2 forms: 1) unilateral and unifocal, characterized by a single tumor in 1 eye, and 2) bilateral or unilateral, multifocal Rb with multiple tumor foci in 1 or both eyes. Rb is a disease of young children and if left untreated can result in visual morbidity as well as systemic mortality. Fortunately, because of the greater availability of genetic testing and earlier diagnosis, novel targeted therapies, and multimodal treatment approaches, disease-free survival rates and visual prognoses have improved dramatically. Current efforts to expand the accessibility of the newest Rb treatments aim to improve Rb outcomes worldwide. In this article, we will review the clinical presentation, diagnosis, and management of Rb, with a focus on the newest treatment approaches.
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