🧬 Can Your Genes Predict Glaucoma? The Future of Early Detection Is Here
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STORY AT-A-GLANCE
Glaucoma often progresses silently, causing irreversible vision loss before symptoms appear.
New research has developed polygenic risk scores (PRS) to identify individuals with a genetic predisposition to primary open-angle glaucoma (POAG).
These scores use genomic data to calculate lifetime glaucoma risk—even before any clinical signs emerge.
Patients with high genetic risk can be flagged for earlier monitoring, lifestyle modification, and personalized treatment plans.
Genetic risk scoring is transforming glaucoma care from reactive to proactive and preventive.
Why Genetic Testing Matters for Glaucoma
Primary open-angle glaucoma (POAG) is known as the “silent thief of sight”—because vision loss often goes unnoticed until significant damage has already occurred.
While elevated intraocular pressure (IOP) is a known risk factor, many patients with normal IOP still develop glaucoma. This disconnect has puzzled clinicians for decades.
Now, the answer may lie in your DNA.
Recent studies show that a person’s polygenic risk score (PRS)—a measure based on multiple genetic variants—can accurately predict who is more likely to develop POAG later in life.
What Is a Polygenic Risk Score?
A polygenic risk score combines the effect of hundreds to thousands of small genetic markers that each contribute a tiny amount to disease risk.
Alone, each marker means little. But together, they create a powerful genetic snapshot that tells us how likely you are to develop glaucoma—even before IOP rises or visual field loss begins.
In one major study, individuals in the highest PRS percentile had a three- to fivefold increased risk of developing POAG compared to those with average scores.¹
How This Changes Clinical Care
Glaucoma care has traditionally been reactive—we monitor IOP, optic nerve changes, and visual field defects and intervene once disease is already present.
Genetic risk scoring flips the script:
Early Identification – Flag high-risk patients before vision is lost
Personalized Surveillance – Tailor exam frequency and diagnostic imaging based on risk
Preventive Action – Encourage lifestyle changes, nutritional support, or early treatment in genetically vulnerable individuals
Family Screening – Identify relatives who may share high-risk genes and intervene earlier
This opens the door to true preventive ophthalmology—a major leap forward for chronic eye disease care.
Who Should Consider Genetic Testing?
People with a family history of glaucoma
Individuals with normal IOP but suspicious optic nerve findings
Patients of African, Asian, or Hispanic descent, who are at higher genetic risk
Anyone interested in a personalized approach to eye health and longevity
Where Can You Do the Test?
1. Avellino Labs (Avellino Genetic Eye Test - AGx)
Test Name: AGxGlaucoma (in development; some regions have early access)
Focus: Genetic predisposition to glaucoma and keratoconus
How it works: Saliva-based testing; available through eyecare providers
Note: Avellino is working on integrating polygenic risk scores with other ocular conditions
2. EyeCheck (UK-based; expanding into US)
Test Name: EyeCheck Genetic Risk Score for POAG (pilot stage in Europe)
Focus: Polygenic risk scoring using over 100 known glaucoma-associated SNPs
Note: Aims to be the first fully validated PRS test specifically for glaucoma with clinical reporting for ophthalmologists