The retinoblastoma gene (RB1), which is located on chromosome 13q14.2, is mutated in retinoblastoma (RB), the most common malignant intraocular tumor in children. About 8000 new cases of retinoblastoma are diagnosed globally each year, accounting for approximately 1 in 17,000 live births. RB is prototypically considered hereditary by nature as thirty to forty percent of cases have autosomal dominant inheritance, and the remaining sixty to seventy percent have non-inherited sporadic inheritance. RB is the most treatable juvenile malignancy, with a high percentage of survival; nevertheless, advanced tumors restrict the amount of globe salvage and are frequently linked to high-risk histological characteristics that indicate spread. Investigating the disease’s molecular causes has also helped to understand its subsequent processes, which has resulted in the identification of biomarkers and relevant targeted treatments. Additionally, advancements in molecular biology techniques facilitated the creation of effective strategies for early disease detection, genetic counseling, and prevention. In the present review, we discuss the risk factors, epidemiology, pathology, and therapeutic approaches for retinoblastoma. We specifically focus on the genetic and molecular characteristics of retinoblastoma, including mutations that cause key signaling pathways involved in the DNA repair, cellular plasticity, and cell proliferation to become dysregulated.
Kumari et al. (2025) studied this question.