Exploring the Genetic Landscape of Primary Open-angle Glaucoma in Indonesia Using Targeted Gene Sequencing

Primary open-angle glaucoma (POAG) is a chronic, progressive optic neuropathy characterized by the degeneration of retinal ganglion cells and a clinically open anterior chamber angle. 1 Its global prevalence is projected to rise significantly due to aging populations, with an expected increase from 76 million in 2020 to 111.8 million by 2040, with Southeast Asia accounting for 10% of the global burden of blindness.[1][2][3] POAG demonstrates a substantial heritable component, with approximately 60% of affected individuals reporting a positive family history, and first-degree relatives can have up to a 10-fold increased risk.4 To date, at least 20 genetic loci have been associated with POAG, 14 of which are designated by the HUGO Genome Nomenclature Committee as GLC1A through GLC1N.5 Regardless of these advances, only a few genes, MYOC, OPTN, and WDR36, are consistently considered causative, whereas the pathogenic roles of many other loci remain under investigation.5 Despite the high prevalence of POAG among Southeast Asians, a substantial gap remains in the understanding of its genetic underpinnings within this region.6 Most genetic studies to date have focused on populations of European, East Asian, or South Asian descent, whereas data on Southeast Asian populations, and specifically the Indonesian population, are extremely limited.6,7 Results of available studies have been sparse and have not comprehensively mapped the broader genetic landscape of POAG in Indonesia.8