Congenital cataract is a disease characterized by lens opacity due to abnormal lens development.This opacity results in moderate to severe visual impairment in infants and young children, significantly impacting their long-term quality of life and imposing a substantial socioeconomic burden globally. The pathogenesis of congenital cataract remains not fully understood. Although genetic factors play a significant role, known gene mutations account for only about 30% of cases, leaving the underlying cause unclear for the majority of affected children. Lens transparency depends on the precise, ordered arrangement of lens epithelial cells and fiber cells, a process that is closely tied to the strictly regulated lens development. Abnormalities at any stage of development may lead to early lens opacity. Therefore, clarifying the molecular and cellular mechanisms that regulate lens development is a prerequisite for investigating the etiology of congenital cataract. Epigenetics is the field of study that focuses on factors controlling gene activity and expression without altering DNA sequences. It encompasses a wide range of modifications including DNA methylation, histone modifications, chromatin remodeling, and non-coding RNA regulation, and has garnered significant attention from researchers in recent years. In the context of ocular development and the mechanisms underlying various eye diseases, epigenetic regulation has been shown to participate in multiple physiological and pathological processes. This review synthesizes published research on epigenetics related to lens development and the pathogenesis of congenital cataract. It aims to summarize the epigenetic molecules and pathways associated with the onset and progression of congenital cataracts, providing a theoretical foundation for further elucidating disease mechanisms and offering new insights and approaches for future clinical diagnosis and treatment.
