Risk Factors and Genetic Markers Associated with the Development and Progression of Glaucoma: A Review

This study aims to systematically evaluate and synthesize current evidence on the environmental risk factors and genetic markers associated with the development and progression of glaucoma, with a focus on primary open-angle (POAG), normal-tension glaucoma (NTG) and angle-closure glaucoma (ACG), in order to clarify their interplay, clinical implications, and potential avenues for personalized risk assessment and therapeutic intervention.

Being one of the major causes of irreversible blindness in the world, glaucoma is a multifactorial optic neuropathy that has a complex interaction between clinical, environmental, and genetic factors. In this literature review, existing evidence on the risk factors and the genetic markers of glaucoma, induced by primary open-angle glaucoma (POAG), NTG, and primary angle-closure glaucoma (PACG), are synthesized.

PubMed, Scopus, Web of Science, DOAJ, and Google Scholar have been searched by using key terms ('Glaucoma,' 'POAG,' 'ACG,' 'Risk Factors,' 'Genetic Markers,' etc.) for peer-reviewed articles, clinical trials, GWAS, and meta-analyses to meet up the study's aim.

Epidemiologic studies reveal significant demographic variations, with POAG prevalent in African populations and PACG in East Asians. Key nonmodifiable risks include age, family history and ethnicity, while modifiable factors comprise elevated IOP, vascular dysregulation and lifestyle. Genetic studies implicate MYOC, OPTN and TBK1 mutations, along with emerging polygenic risk scores, underscoring the importance of personalized management considering gene-environment interactions.

In this review, early screening, genetic screening, and specific interventions have been highlighted to combat the menace of glaucoma that results in a high global burden.

This comprehensive review enhances clinical practice by identifying high-risk populations for targeted screening and highlighting key genetic markers (e.g., MYOC, OPTN) that enable personalized glaucoma management. It improves diagnostic accuracy by clarifying modifiable (IOP, smoking) and nonmodifiable (age, family history) risk factors while informing therapeutic strategies through mechanistic insights into autophagy and vascular regulation. Additionally, the study addresses healthcare disparities by emphasizing ethnic-specific risk patterns and supports genetic counseling for familial cases, ultimately guiding more effective prevention and treatment approaches to preserve vision.

Hamid SAT, Abdulmajeed SM, Chowdhury IH, et al. Risk Factors and Genetic Markers Associated with the Development and Progression of Glaucoma: A Review. J Curr Glaucoma Pract 2025;19(4):216-222.