Uveal melanoma (UM) and retinoblastoma (RB), which cause blindness and even death, are the most frequently observed primary intraocular malignancies in adults and children, respectively. Epigenetic studies have shown that changes in the epigenome contribute to the rapid progression of both UM and RB following classic genetic changes. The loss of epigenetic homeostasis plays an important role in oncogenesis by disrupting the normal patterns of gene expression. The targetable nature of epigenetic modifications provides a unique opportunity to optimize treatment paradigms and establish new therapeutic options for both UM and RB with these aberrant epigenetic modifications. We aimed to review the research findings regarding relevant epigenetic changes in UM and RB. Herein, we 1) summarize the literature, with an emphasis on epigenetic alterations, including DNA methylation, histone modifications, RNA modifications, noncoding RNAs and an abnormal chromosomal architecture; 2) elaborate on the regulatory role of epigenetic modifications in biological processes during tumorigenesis; and 3) propose promising therapeutic candidates for epigenetic targets and update the list of epigenetic drugs for the treatment of UM and RB. In summary, we endeavour to depict the epigenetic landscape of primary intraocular malignancy tumorigenesis and provide potential epigenetic targets in the treatment of these tumours.

导致失明甚至死亡的葡萄膜黑色素瘤 (UM) 和视网膜母细胞瘤 (RB) 分别是成人和儿童最常见的原发性眼内恶性肿瘤。表观遗传学研究表明，表观基因组的变化有助于经典遗传变化后 UM 和 RB 的快速进展。表观遗传稳态的丧失通过破坏基因表达的正常模式在肿瘤发生中起重要作用。表观遗传修饰的可靶向性为优化治疗范例提供了独特的机会，并通过这些异常的表观遗传修饰为 UM 和 RB 建立新的治疗选择。我们旨在回顾有关 UM 和 RB 相关表观遗传变化的研究结果。在这里，我们 1) 总结文献，重点是表观遗传改变，包括 DNA 甲基化、组蛋白修饰、RNA 修饰、非编码 RNA 和异常的染色体结构；2) 阐述表观遗传修饰在肿瘤发生过程中对生物过程的调控作用；3) 为表观遗传靶点提出有希望的治疗候选者，并更新用于治疗 UM 和 RB 的表观遗传药物清单。总之，我们努力描绘原发性眼内恶性肿瘤发生的表观遗传景观，并为这些肿瘤的治疗提供潜在的表观遗传靶点。3) 为表观遗传靶点提出有希望的治疗候选者，并更新用于治疗 UM 和 RB 的表观遗传药物清单。总之，我们努力描绘原发性眼内恶性肿瘤发生的表观遗传景观，并为这些肿瘤的治疗提供潜在的表观遗传靶点。3) 为表观遗传靶点提出有希望的治疗候选者，并更新用于治疗 UM 和 RB 的表观遗传药物清单。总之，我们努力描绘原发性眼内恶性肿瘤发生的表观遗传景观，并为这些肿瘤的治疗提供潜在的表观遗传靶点。