Glaucoma diagnosis and treatment in the era of precision medicine.

Abstract

Glaucoma is a chronic, degenerative eye disease for which personalized diagnostic and therapeutic biomarkers are still lacking. Precision medicine offers a promising strategy to improve glaucoma management, and pharmacogenomics may play a key role in optimizing treatment response, minimizing side effects, and enhancing adherence. Advances in genetics have introduced potential tools such as polygenic risk scores (PRS) for adult-onset glaucoma and CRISPR/Cas9 for early-onset monogenic forms. Although still in its early stages, pharmacogenetic research in glaucoma has identified several genetic variants that may influence drug efficacy and security. Notably, single nucleotide polymorphisms in genes such as PTGFR, ADRB2 and CYP2D6 have been associated with varied responses to beta-blockers and prostaglandin analogues. Other candidate genes include ABCB1, SLCO2A1, AFAP1, and ADRB1, though findings remain preliminary. Despite the appeal of genetically guided therapy, broader implementation in clinical practice requires larger, multicenter validation studies, functional analysis of variants, and consensus on actionable biomarkers. Until then, early diagnosis, adherence, and timely treatment remain the pillars of glaucoma care. This narrative review provides an updated overview of the current evidence, knowledge gaps, and future directions in the pharmacogenomics of glaucoma.