This systematic review (PRISMA-compliant, 18 studies) evaluated gene polymorphisms associated with structural or functional progression of primary open-angle glaucoma (POAG) in adult-onset patients, searching MEDLINE, EMBASE, Cochrane, Scopus, and other databases.
Several variants linked to faster progression: HLA haplotypes A1-B8/A2-B40 and MYOC.mt1+ → faster optic nerve head damage; APOE ε4 → faster macular thinning (normal tension glaucoma); BDNF rs6265 Val/Val → accelerated RNFL loss (especially females); TGFBR3-CDC7 rs1192415:G and MYOC.mt1+ → faster visual field deterioration; GAS7 rs9913911:AA, IL1B rs1143627:CT/rs16944:CT, and OPTN rs2234968 → higher likelihood of requiring surgery. ABCA1, CDKN2B-AS, eNOS, and Piezo1 variants showed inconclusive results.
Only 18 studies were included, reflecting a sparse evidence base; most source studies likely vary in design, population ancestry, and progression endpoints, limiting comparability; findings may not be generalizable across ethnicities.
Clinicians managing POAG should be aware that specific genetic variants (e.g., BDNF rs6265 Val/Val, APOE ε4, MYOC.mt1+) may flag patients at higher risk for rapid structural or functional decline, warranting closer surveillance. Genetic screening is not yet standard of care, but these markers could inform personalized monitoring intervals as evidence matures.
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