Omics in Keratoconus: From Molecular to Clinical Practice

Abstract

Keratoconus (KC) is a progressive ocular disorder marked by structural and functional alterations of the cornea, leading to significant visual impairment. Recent studies indicate that these corneal changes are linked to molecular and cellular mechanisms that disrupt and degrade the extracellular matrix. This degradation is influenced by proteinases that contribute to a loss of homeostasis and an imbalance in the antioxidant/oxidative state within the cornea, fostering oxidative stress, inflammation, and apoptosis. Although these biological processes have been identified primarily through molecular biology research, omics technologies have significantly advanced our understanding of the physiological and pathological phenomena associated with KC. Omics studies encompassing genomics, transcriptomics, proteomics, epigenomics, and metabolomics, have emerged as critical tools in elucidating the complex biological landscape of various diseases, including ocular conditions. The integrative application of these studies has demonstrated their potential in personalizing medicine across diverse fields such as oncology, neurology, and ophthalmology. This review aims to describe findings from omics research applied to keratoconus, highlighting the genomic, transcriptomic, proteomic, epigenomic, and metabolomic aspects derived from ocular and other biological samples. Notably, the molecular insights gained from these studies hold promise for identifying biomarkers of keratoconus, which could enhance diagnostic accuracy and therapeutic strategies. The exploration of these biomarkers may facilitate improved management and treatment options for patients, contributing to personalized care in keratoconus management.

Keywords: exposome; genetics; inflammation; keratoconus; omics; transcriptomic.

Figure 1

The schematic summarizes the role of inflammation in keratoconus (KC), highlighting changes in molecular components of the tear film and corneal cells (keratocytes and fibroblasts). These alterations contribute to the dysregulation of molecular pathways, including oxidative stress, extracellular matrix degradation, and apoptosis.

Figure 2

Representation of environmental (internal and external) factors that influence Keratoconus. KC (Keratoconus). The green box represents aspects related to the exposome, while the purple box illustrates the various disciplines of omics. Finally, the blue box describes KC. By integrating these three concepts, a deeper understanding of the disease is achieved.