Abstract:Retinoblastoma is the most common primary intraocular malignancy in infants and young children, posing a serious threat to both vision and life. It is generally classified into heritable and non-heritable forms. Studies have shown that retinoblastoma cells most likely originate from cone precursor cells, and their development is closely associated with the inactivation of the RB1 gene. In addition to RB1, other genes such as MYCN, TP53, and PRMT1 are also involved in the initiation and progression of retinoblastoma. Dysregulation of multiple signaling pathways, including RB/E2F, WNT, and PI3K/AKT, collectively drives tumor cell survival, proliferation, invasion, and metastasis. The treatment of retinoblastoma has evolved from a primary emphasis on enucleation to a comprehensive and individualized approach that prioritizes globe preservation and visual protection, incorporating local therapies, chemotherapy, and radiotherapy. Novel therapeutic strategies such as targeted therapy, immunotherapy, and gene therapy are also under active investigation. In recent years, long non-coding RNAs (lncRNAs), as key regulators of gene expression, have gained increasing attention for their roles in the pathogenesis of retinoblastoma. They show promise as novel diagnostic biomarkers and may provide new insights and strategies for the treatment of the disease. This review summarizes the research progress in the areas outlined above.
