Retinoblastoma

Retinoblastoma, the most common primary intraocular malignancy of childhood, represents a substantial global health equity concern, exemplifying profound disparities in global burden and outcome despite being a largely curable cancer. Retinoblastoma is thought to arise from cone photoreceptor precursor cells of the developing retina, mainly driven by biallelic inactivation of the RB1 tumour suppressor gene. Fewer than 2% of cases have no detectable RB1 pathogenic variant; approximately half of these cases instead show high-level amplification of the MYCN oncogene. Diagnosis and monitoring currently rely on clinical examination and multimodal imaging. Emerging molecular diagnostic approaches such as aqueous humour liquid biopsy hold promise for minimally invasive tumour characterisation and real-time disease monitoring. Management has shifted towards eye-preserving strategies, with intra-arterial, intravitreal, and intracameral chemotherapy showing efficacy and safety. The global burden and mortality of retinoblastoma remains highest in regions with a low sociodemographic index, highlighting the need for continued interdisciplinary, equity-focused efforts to ensure timely diagnosis and accessible, high-quality care worldwide. This Seminar reviews the advances in retinoblastoma biology, diagnosis, treatment, survivorship, and global efforts to reduce inequities.