Retinoblastoma: Ocular Genetic Studies

Retinoblastoma (RB) is the most common primary intraocular malignant tumor of childhood. The disease arises from a complex interplay of genetic and epigenetic mechanisms. While mutations in the RB1 gene form the foundation of its pathogenesis, alternative pathways such as MYCN amplification play a role in a minority of cases. Additionally, alterations in DNA methylation, histone modifications, and dysregulated expression of non-coding RNAs (circRNA, lncRNA, miRNA) contribute to tumorigenesis. In cases where biopsy is contraindicated, analysis of cell-free DNA (cfDNA) and aqueous humor sampling offer valuable diagnostic and monitoring alternatives. Targeted genetic therapies, epigenetic interventions, and novel biomarkers represent promising future strategies in the management of retinoblastoma. This review aims to evaluate the genetic and epigenetic foundations of retinoblastoma, diagnostic approaches, and recent advances in biomarkers.