Advances in imaging to optimize the diagnosis and characterization of retinoblastoma: A systematic review

Abstract

Introduction: Retinoblastoma is the most common intraocular malignant tumor in childhood and may spread to the optic nerve. Early diagnosis and timely treatment are crucial to prevent enucleation and visual sequelae. The aim of this study was to analyze and evaluate the scientific evidence on both new and conventional imaging techniques used to assess tumor extent. Materials and Methods: A systematic review of studies published between 2020 and 2025 in English and Spanish on imaging techniques for the diagnosis of retinoblastoma was conducted. The search was performed in PubMed, ScienceDirect, Scielo, and Google Scholar. Observational studies, clinical studies, and systematic reviews were included, while genetic or molecular research without clinical diagnostic application, studies in adults, animals, or in vitro models, as well as articles focused solely on treatment or prognosis, were excluded. Results: Seventeen studies were included. Magnetic resonance imaging, particularly high-resolution MRI, demonstrated the highest sensitivity and specificity for detecting postlaminar optic nerve invasion and other high-risk features. Ultrasound and computed tomography were useful for identifying masses and calcifications but had a lower capacity to assess optic nerve invasion and extraocular extension. Advanced retinal imaging techniques and microvascular flow imaging provided improved accuracy for characterization and follow-up, although the available evidence remains limited. Conclusions: High-resolution magnetic resonance imaging is established as the key technique for evaluating retinoblastoma, while emerging modalities are complementary and promising; however, their clinical utility requires confirmation through prospective studies with stronger scientific evidence.