Screening Methods for Early Identificationof Retinoblastoma: A Systematic Reviewof Clinical and Genetic Approaches

Abstract

Purpose: The present systematic review examined the diagnostic efficacy and clinical applicability of modern retinoblastoma screening and early detection methods, including wide-field digital imaging, red reflex
examination, smartphone-based tools, ultrasonography, MRI, and RB1 genetic testing. Methods: A thorough search of PubMed, Google Scholar, and ResearchGate yielded 2,338 records. 22 papers from 2015–2025 were
included after removing duplicates and applying inclusion and exclusion criteria. Data from various healthcare settings were evaluated by screening mode, diagnostic effectiveness, feasibility, and clinical relevance. The QUADAS-2 instrument examined bias. An OSF Registration done. Results: The red reflex test was the most used universal screening approach, however it was insensitive to small or posterior cancers. Indirect ophthalmoscopy, ultrasonography, and MRI were mostly confirmatory, with MRI revealing optic nerve and brain extension insights. Wide-field digital retinal imaging was most sensitive for early, asymptomatic tumours, especially in new-born screening. Smartphone imaging and automated leukocoria apps improve early detection in resource-constrained contexts. While access was limited in low- and middle-income countries, genetic testing showed hereditary cases and helped plan surveillance. Conclusion: Wide-field imagery was the most effective early detection method, however smartphone-based solutions worked in underserved areas. For paediatric retinoblastoma patients, a stratified, resource-optimized screening strategy that integrates clinical assessment, imaging, and genetic analysis could improve early detection, treatment efficacy, and survival. This study emphasises the need to improve
screening techniques and expand diagnostic technology internationally.