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REVIEW ARTICLE

Epigenetic landscape of ocular cancer: A roadmap to understanding gene and protein dysregulation

Shalini Sanyal1* ,  Sayantan Ghosh1 ,  Abhijit Ghosh2
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1 Prof. Brien Holden Eye Research Centre, L. V. Prasad Eye Institute, Hyderabad, Telangana, India
2 Molecular Parasitology Laboratory, National Institute of Animal Biotechnology, Hyderabad, Telangana, India
GPD, 025130028 https://doi.org/10.36922/GPD025130028
Received: 30 March 2025 | Revised: 20 December 2025 | Accepted: 24 December 2025 | Published online: 12 May 2026
© 2026 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Ocular malignancies exhibit profound epigenetic dysregulation that orchestrates oncogenic activation, tumor suppressor silencing, and transcriptional reprogramming. This review delineates the epigenetic mechanisms implicated in ocular cancers, encompassing DNA methylation aberrations, histone post-translational modifications, non-coding RNAs (ncRNAs), and chromatin-remodeling complexes that cooperatively modulate gene expression dynamics, cellular plasticity, and tumor–microenvironment interactions. Perturbations in the DNA methylome, such as CpG island hypermethylation of RB1 and CDKN2A, and global hypomethylation of transposable elements, potentiate genomic instability, facilitate immune evasion, and reinforce tumorigenic transcriptional circuits. Similarly, dysregulated histone acetylation and methylation landscapes alter chromatin accessibility, disrupting pathways governing cell cycle progression, apoptosis resistance, and metastatic competence. ncRNAs, such as oncogenic microRNA-17–92 clusters and lncRNA HOTAIR, further amplify oncogenic cascades by post-transcriptional repression of tumor suppressors and modulation of chromatin-associated effector proteins. This review provides an overview of current advances in the understanding of epigenetic modifications, including DNA methylation dynamics, histone modification networks, and ncRNA-mediated regulation, in retinoblastoma, uveal melanoma, and other ocular malignancies. By integrating recent findings from multi-omics analyses, the review highlights how epigenetic reprogramming intersects with genomic instability to drive tumor heterogeneity and therapeutic resistance. Furthermore, it underscores the translational potential of epigenetic biomarkers for risk stratification, prognostication, and therapeutic response prediction, and discusses emerging strategies targeting DNA methyltransferases and histone deacetylases to reverse aberrant epigenetic states. Collectively, this review aims to contextualize the evolving epigenomic landscape of ocular cancers and outline avenues for precision epigenetic therapy in ocular oncology.

Keywords
Ocular neoplasms
Retinoblastoma
Uveal melanoma
Epigenetics
Therapeutics
DNA methylation
Histone modifications
Funding
None.
Conflict of interest
The authors declare they have no competing interests.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing
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