ReadYourDNA

Glaucoma

Where your DNA places you among other people, and the studies behind it.

General information

Not tailored to your result, and not medical advice

Get Regular Comprehensive Eye Exams: Glaucoma usually has no early symptoms, and about half of those affected do not know they have it. A comprehensive dilated eye exam - measuring intraocular pressure and examining the optic nerve and visual field - is the only reliable way to detect it early, when IOP-lowering treatment is most effective at preserving sight. Higher-risk adults (over 60, African ancestry over 40, or a family history of glaucoma) should be checked every one to two years. National Eye Institute

Stay Physically Active: Aerobic exercise is associated with a short-term reduction in intraocular pressure, and regular moderate activity such as brisk walking is a reasonable part of overall eye and cardiovascular health. Evidence for a durable, long-term effect on glaucoma progression is still mixed, so exercise should complement - not replace - prescribed IOP-lowering treatment and routine eye exams. International Ophthalmology (systematic review)

Genetics vs Environment

How much of this is genetic?

Genetics explains 50% of why people differ in this trait. The rest is environment, daily habits and chance.

Heritability estimate: Trivli et al. 2020, Mol Med Rep

About Glaucoma

Background and further reading

Glaucoma is a group of eye diseases that progressively damage the optic nerve, usually linked to raised pressure inside the eye (intraocular pressure, or IOP). It is the leading cause of irreversible blindness worldwide, affecting an estimated 76 million people aged 40-80 in 2020, a figure projected to reach about 112 million by 2040 [1]. Primary open-angle glaucoma (POAG) is the most common form. Damage often begins at the edges of vision and progresses silently, so many people are unaware they have it until sight is already lost - which is why elevated IOP is not always present (normal-tension glaucoma occurs at statistically normal pressures).

Genetic Basis: Glaucoma runs strongly in families: first-degree relatives of someone with POAG carry several times the average risk, and family and twin studies put the heritability high - commonly cited estimates range from around 40% up to roughly 70% [4]. The genetic architecture is mostly polygenic. A large multi-ancestry meta-analysis identified 127 risk loci for open-angle glaucoma, of which 44 were new, with effects largely consistent across European, Asian and African populations [2]. A separate genome-wide study of intraocular pressure - the main heritable driver of glaucoma - found 101 independent signals and improved genetic risk prediction for POAG [3]. Well-established genes include MYOC, TMCO1, CDKN2B-AS1, SIX1/SIX6, and CAV1, which influence aqueous humor outflow, optic nerve head structure, and retinal ganglion cell survival [4]. Rare high-penetrance mutations, mainly in MYOC, account for only about 3-5% of cases [4].

Environmental Factors: Elevated IOP is the main modifiable risk factor and the only one current treatments target. Randomized trials show that lowering IOP - with eye drops, laser, or surgery - slows or prevents progression: in the Early Manifest Glaucoma Trial each 1 mmHg of pressure reduction was associated with roughly a 10% lower risk of progression, and IOP-lowering also helps in normal-tension glaucoma [5]. Aerobic exercise can produce a temporary drop in IOP, though evidence for lasting benefit is mixed [6]. Age, African ancestry, high myopia, and family history are key non-modifiable risk factors. Because POAG is usually painless and symptomless until vision is lost, early detection through regular eye exams is the most important protective step.

How this was calculated

The published research behind your score, and the variants it draws on.

Study Details

10 published scores from 6 studies

The glaucoma score combines 10 polygenic scores drawn from 6 published studies.

Wang Y (2023). Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts. Cell Genom: 911k

Sekimitsu S (2023). Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden. JAMA Ophthalmol: 144k

Mars N (2022). Systematic comparison of family history and polygenic risk across 24 common diseases. Am J Hum Genet: 1.1M

Truong B (2024). Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases. Cell Genom: 838k

Privé F (2022). Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort Am J Hum Genet: 673k

Tanigawa Y (2022). Significant sparse polygenic risk scores across 813 traits in UK Biobank. PLoS Genet: 2k

Sources

Tham YC, et al. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology (2014)

Gharahkhani P, et al. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nature Communications (2021)

MacGregor S, et al. Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nature Genetics (2018)

Trivli A, et al. Primary open angle glaucoma genetics: the common variants and their clinical associations. Molecular Medicine Reports (2020)

Heijl A, et al. Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial. Archives of Ophthalmology (2002)

Tribble JR, et al. Systematic review on the impact of exercise on intraocular pressure in glaucoma patients. International Ophthalmology (2024)

Related Traits

These traits are influenced by some of the same genes and variants as this one

AMD (Macular Degeneration): A progressive eye disease that damages the macula, a leading cause of vision loss in older adults.

Myopia: Nearsightedness - difficulty seeing distant objects, the most common refractive error worldwide.

Cataract: Clouding of the eye's lens, the most common cause of reversible vision loss.

Back to All Traits

Content updated August 2026.

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