@article{AES9249,
author = {Nefeli Eleni Kounatidou and Sotiria Palioura},
title = {Biomarker discovery in ocular surface diseases through comprehensive omics investigations: a narrative review},
journal = {Annals of Eye Science},
volume = {11},
number = {0},
year = {2026},
keywords = {},
abstract = {Background and Objective: Omics technologies, including genomics, transcriptomics, proteomics, metabolomics, and lipidomics, enable large-scale molecular profiling and are increasingly applied in ophthalmology for purposes of diagnosis of disease, patient stratification and development of targeted therapies. The objective of this article is to summarize and critically evaluate current omics-based evidence in ocular surface disease and neoplasia, focusing on dry eye disease (DED), meibomian gland dysfunction (MGD), epithelial basement membrane dystrophy (EBMD), Salzmann’s nodular degeneration (SND), pterygium, ocular surface squamous neoplasia (OSSN), and conjunctival melanoma (CM).Methods: The literature search was conducted on the 15th of July 2025, across PubMed/MEDLINE, Scopus, and Cochrane Library, with supplementary screening of Google Scholar and the reference lists of included studies. Eligible studies included original research articles, systematic reviews, meta-analyses, and translational studies applying omics technologies to ocular surface disease and neoplasia in the English language.Key Content and Findings: Genomics has been most successful in the study of ocular surface neoplasias including OSSN and CM, identifying UV-signature mutations and pathway alterations with diagnostic and prognostic value. Metabolomic and lipidomic profiling have been particularly informative for DED and MGD, while transcriptomic and proteomic analyses across EBMD, SND, and pterygium suggest pathways of epithelial remodeling, extracellular matrix turnover, and immune dysregulation.Conclusions: Omics research is identifying disease-specific biomarkers and molecular pathways across ocular surface diseases, with potential to improve early diagnosis, objective disease stratification, and therapeutic targeting. Integration of these findings may support precision medicine approaches in both inflammatory and neoplastic conditions of the ocular surface, although clinical implementation will require standardized methodologies and robust validation in larger cohorts.},
issn = {2520-4122}, url = {https://aes.amegroups.org/article/view/9249}
}