Molecular Genomics of Glaucoma: An Update

Govindasamy Kumaramanickavel, Siddhita Jadhav, Sugirdhana Parthiban Ramsait, Pinakin Gunvant Davey

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic


Glaucoma is in the top five age-related eye disorders with increasing prevalence globally. Past research has led to the understanding of glaucoma as a neurodegenerative disease. Glaucoma phenomics could be syndromic or non-syndromic. Globally primary open angle, primary angle closure and primary pseudoexfoliation glaucomas are widely present. The genetics and genomics of glaucoma are heterogeneous, both clinically and genetically. Glaucoma has heritability associations, particularly with central corneal thickness, retinal nerve fibre layer and peripapillary atrophy. Ocular embryogenesis genes when mutated could cause either local (in situ), pan-ocular or systemic syndromic glaucoma phenomics. In glaucoma, except for a few single gene causes, most of the associations have been shown with innumerable gene single-nucleotide polymorphisms and epigenetic factors. The biological mechanisms in glaucoma are mechanical strain, inflammation, oxidative stress, vascular dysregulation, and immune imbalance, which independently or collectively contribute to the neurodegeneration and visual morbidity. Biomarkers in glaucoma have experimental study biases and therefore today we cannot apply them effectively in clinical practice and henceforth that demands further research to understand the fundamental basis of the disease. However, the knowledge gained in research will translate into early detection and biomolecular interventional strategies, having traction toward personalised medicine.
Original languageEnglish
Title of host publicationGlaucoma - Recent Advances and New Perspectives
EditorsPinakin Gunvant Davey
Publication statusPublished - 2022


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