Is Glaucoma Hereditary? TMCO1, MYOC, and What a 23andMe Result Really Means

Is Glaucoma Hereditary? TMCO1, MYOC, and What a 23andMe Result Really Means

This article is for educational purposes only. It is not a substitute for advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. For any decisions about testing, treatment, or care, consult a qualified clinician. In emergencies, call 911.

Bottom line: For most adults, glaucoma comes from many genes acting together (doctors call this “polygenic”), not one broken gene. A 2023 study found 263 to 312 gene spots tied to it. A 23andMe “increased likelihood” result reflects that many-gene pattern. It is not a diagnosis. It does not replace what a full eye exam already checks: eye pressure, the drainage angle, the optic nerve, and your side vision. A much rarer form comes from a single changed gene called MYOC. It causes disease earlier in life, with higher eye pressure, and it behaves very differently. Either way, one large clinical trial already proved what works: lowering eye pressure delays or stops vision loss.

What you’ll learn

• Why most adult glaucoma comes from hundreds of common genes working together, not one inherited change, and how that differs from the rarer MYOC and CYP1B1 forms
• How to turn “increased likelihood” and family history into real numbers, instead of a vague fear
• What a 23andMe report can and cannot tell you, compared with what an eye doctor’s exam actually checks
• Why the December 2023 approval of a new implant matters for anyone tired of daily eye drops

Two Different Kinds of “Genetic”: Common Polygenic Risk Versus Rare MYOC Mutations

Glaucoma is genetic. That much is true. But it is genetic in two very different ways, and knowing which one fits your family changes almost everything else in this article.

For most adults, including people whose parent or sibling was diagnosed later in life, primary open-angle glaucoma comes from many genes acting together. Doctors call this a “polygenic” trait — poly meaning many, genic meaning genes. Risk builds up from the small combined effect of hundreds of common gene variants, not one broken gene. A 2023 study looked at glaucoma diagnosis, eye pressure, and optic-nerve measurements across more than 2.8 million research participants. It found 263 independent risk spots (called loci) in European-ancestry data and 312 in a broader, multi-ancestry analysis, with 98% of results confirmed in a separate group. That is not one gene causing disease. It is hundreds of small genetic nudges adding up over decades.

One of those risk spots has a name worth knowing: TMCO1. A 2011 study first linked TMCO1 to open-angle glaucoma risk. Scientists still do not fully know how TMCO1 affects the eye. What they do know is that it is common — present in a large share of the population. It adds only a small piece to overall risk, not a cause on its own.

Now for the rarer path. Changes in a single gene called MYOC (short for myocilin) can cause glaucoma on their own. Doctors call this pattern “autosomal-dominant,” which means just one changed copy from either parent is enough to raise real risk. This gene was found in 1997. MYOC-related glaucoma tends to show up earlier than the common form — often in a person’s teens, twenties, or thirties — and it often comes with unusually high eye pressure. A family history of glaucoma diagnosed young is worth mentioning to a clinician. It can point toward testing this single gene rather than thinking about the many-gene pattern most adults face.

A third, even rarer pattern completes the picture. Changes in a gene called CYP1B1 cause an “autosomal-recessive” form, meaning a child needs two changed copies — one from each parent — to be affected. This form, called primary congenital glaucoma, shows up in infancy, not adulthood, and is separate from the age-related risk covered in the rest of this article.

• Common polygenic risk (most adults): hundreds of common gene variants, each adding a small nudge, mapped mainly by the 2023 multitrait study
• MYOC change (rare, autosomal-dominant): one changed gene copy is enough; usually shows up young, with high eye pressure
• CYP1B1 change (very rare, autosomal-recessive): two changed copies needed; causes glaucoma diagnosed in infancy

Think of it like weather versus a single storm warning. The common, many-gene pattern is like climate: many small factors shifting the odds over a lifetime. A MYOC change is like a specific storm warning: one clear signal demanding direct attention. For most adult readers whose parent was diagnosed in their fifties or sixties, the honest answer is the climate picture: risk built from many genes, not one inherited change.

A genetic counselor can help sort out which pattern actually fits a specific family history, especially when the age of onset is unusually young. That conversation is worth having before assuming either extreme.

Section recap: Most adult open-angle glaucoma comes from hundreds of common gene variants working together, including TMCO1. A minority of cases, usually starting young, trace to a single MYOC change, and cases present at birth can trace to CYP1B1.

How Much Risk Is That in Real Numbers: Prevalence, Ancestry, and 4.2 Million by 2030

Genetics research only helps once it turns into numbers you can use.

The National Eye Institute counts more than 3 million people in the United States with glaucoma today. That is projected to pass 4.2 million by 2030 — roughly a 58% rise — and about 6.3 million by 2050. Put another way, out of every 100 people in the United States, roughly 1 has glaucoma right now. That share is expected to climb a little higher by 2030 as the total nears 4.2 million. Glaucoma is already a leading cause of permanent blindness worldwide. These are population-wide numbers, not a personal forecast, but they explain why family history and ancestry both matter so much in an individual risk conversation.

Having a parent or sibling with open-angle glaucoma is one of the most consistently confirmed risk factors across large studies. This article will not invent an exact multiplier, because no single number fits every family cleanly. The direction, though, is clear and well repeated: a first-degree relative with glaucoma raises your own odds compared with someone who has no family history at all.

Ancestry matters too, and not by a small margin. Black, Hispanic, and some Asian groups carry a higher share of open-angle and angle-closure glaucoma. A 2019 study focused only on people of African ancestry. It found a risk gene spot, APBB2, that had not turned up in earlier studies done mostly in people of European ancestry. That finding backs a real, partly genetic reason for part of this gap. Unequal access to eye care remains a separate, well-documented factor that researchers are careful not to mix up with genetics.

One honest caveat belongs here. The authors of the 2023 study noted that 98% of their results held up in a separate group — a strong result. They also flagged that how well a gene-based risk score works, and transfers, across non-European ancestries is still an open research question. A risk score built mostly from one ancestry group does not automatically work as well for another.

Picture a weather forecast built from decades of local data in one city, then applied to a city on the other side of the world. The basic physics is the same. The exact numbers may not travel cleanly yet.

If your family history includes glaucoma, say so clearly at your next eye exam rather than assuming your eye doctor already knows from a routine visit.

Section recap: Roughly 1 out of every 100 people in the US has glaucoma today, a share projected to grow past 4.2 million cases by 2030. The disease disproportionately burdens Black, Hispanic, and some Asian groups, a pattern tied to both genetics and access to care.

What a 23andMe “Glaucoma” Report Is, and What a Real Eye Exam Checks That It Does Not

A DNA report and a diagnosis answer two very different questions, and the gap between them is where most confusion starts.

23andMe’s Glaucoma report sits inside its Health Predisposition Polygenic Reports group, labeled “Powered by 23andMe Research.” It gives a population-relative likelihood category, such as “increased likelihood,” built from a gene-based score. That score is a statement about where you sit compared with other people. It is not a measurement of your eyes, and it is not a diagnosis of any kind.

A full, dilated eye exam checks something else entirely: your actual eyes, right now. It typically includes four checks:

• Tonometry — measures eye pressure directly, usually with a quick puff of air or a small probe
• Gonioscopy — a check of the eye’s drainage angle using a special mirrored lens, which tells open-angle risk apart from the different, sometimes more urgent, angle-closure risk
• Optic-nerve imaging (OCT) — a scan of the optic nerve and the nerve-fiber layer around it, to spot early structural damage
• Visual-field testing — checks your actual side vision for the kind of loss that defines a glaucoma diagnosis

No DNA test measures any of these four things.

Clinical gene testing does exist, but it serves a narrower, different purpose than a consumer report. An eye specialist (ophthalmologist) or genetic counselor may order a lab test of the MYOC or CYP1B1 gene for some patients. This is usually for disease that starts young, comes with unusually high pressure, or is present at birth. That patient is often a child or young adult. It is a targeted clinical choice made through a lab, not something a spit kit performs.

Here is the plainest way to put it. If you take away only one action from this article, make it booking a full, dilated eye exam, not re-reading your 23andMe percentile. The exam checks your actual eyes. The report checks your ancestry-weighted statistics.

Cost and access differ between the two paths too. A direct-to-consumer (DTC) kit is a one-time purchase on your own schedule, with no clinician involved in reading it. A full, dilated eye exam usually needs an appointment with an eye doctor. Routine screening visits without symptoms or known risk factors are not always covered the same way as a visit prompted by a specific concern. Saying your family history out loud when you book the visit can change how it gets coded and covered. It is worth stating up front rather than waiting until you are in the chair.

Think of the difference like a neighborhood crime-rate statistic versus a home security check. The statistic tells you something true about the area. It cannot tell you whether your own locks and windows are secure today.

Ask your eye doctor directly whether your exam included the drainage-angle check and the optic-nerve scan. A basic screening visit does not always include all four tests by default.

Section recap: A 23andMe report gives a population-relative likelihood category, not a diagnosis, and cannot replace the four core eye-exam checks: eye pressure, drainage angle, optic-nerve imaging, and side-vision testing.

Reading Your Result Without Over-Reading It: Likelihood Categories, VUS, and What Your Eye Doctor Will Actually Act On

Reading a genetic result correctly is its own skill, separate from understanding the biology behind it.

A gene-based “increased likelihood” result is a percentile-style statement about population risk. It is not the same kind of finding as a “pathogenic,” “benign,” or “variant of uncertain significance” (VUS) result. Those labels belong to single-gene testing, the kind used when a lab checks MYOC or CYP1B1 on a clinical panel. A VUS means a lab found a gene change whose effect on disease risk is not yet clear — neither confirmed harmful nor confirmed harmless. That label can show up on a clinical single-gene test. It never shows up on a consumer gene-based report, because the two methods work in completely different ways.

Mixing up these two systems is one of the most common reader mistakes. It is an easy one to make, since both arrive as a report from a DNA test.

Here is what to expect at your next visit. The US Preventive Services Task Force reviewed the evidence in 2022 and found it was not enough to recommend screening every adult without symptoms for open-angle glaucoma. That means your eye doctor is not going to change your exam schedule based on a DTC percentile alone. Family history works differently. Professional guidance, including that from the American Academy of Ophthalmology, already treats a first-degree relative’s glaucoma as a reason for earlier and more frequent full eye exams.

The genuinely useful move is bringing a specific family history to your exam, not your DTC percentile. Name the relative, their age at diagnosis, and whether they needed surgery or lost vision before treatment started. That concrete detail helps a clinician set your exam schedule far more than a statistical category does.

Think of it like a mechanic asking about your car’s actual repair history rather than a general reliability rating for its make and model. The specific history is what changes the advice.

It also helps to know what a thorough exam should include once family history is on the table, so you can ask if a step gets skipped. That means checking eye pressure more than once, since it can change through the day. It also means the drainage-angle check, an optic-nerve scan, and a baseline side-vision test even if your vision currently feels fine. A baseline reading, taken while everything still looks normal, gives a doctor something concrete to compare against years later if anything starts to shift.

Write down your family’s glaucoma history in a sentence or two before your next eye appointment, and hand that to your eye doctor directly.

Section recap: A gene-based likelihood result is not a VUS or a pathogenic finding, and the USPSTF has not backed screening every adult based on it. Family history, not a DTC percentile, should shape your exam schedule.

Prevention and Early Detection: What the Ocular Hypertension Treatment Study Actually Proved

This is the section where care with the evidence matters most, because it is easy to overstate what science has actually shown here.

The Ocular Hypertension Treatment Study, a landmark randomized trial, enrolled adults with high eye pressure but no diagnosed glaucoma yet. Half received pressure-lowering eye drops; the rest were watched without treatment. The treated group developed open-angle glaucoma far less often. That one trial remains the strongest proof glaucoma prevention has: lowering eye pressure delays or prevents the disease in people at higher risk. It is the reason “lower your eye pressure” sits at the center of both prevention and treatment — not a slogan repeated without evidence behind it.

There is no blood test or gene test that stands in for measuring eye pressure and optic-nerve health directly. In practice, that means “early detection” comes down to how often, and how thoroughly, you get eye exams — not a lab result. National guidance recommends shortening that gap for people with a family history of glaucoma.

A few factors are worth knowing, some you can act on and some you can only watch:

• Full eye exams, started earlier and repeated more often once family history is in the picture
• Certain blood-pressure drugs and long-term steroid use, which can raise eye pressure — worth mentioning to a prescribing doctor if you already carry glaucoma risk
• General heart and blood-vessel health, with more circumstantial, less firmly proven, ties to blood flow around the optic nerve
• Older age, diabetes, and nearsightedness (myopia), all recognized as added risk factors by professional guidance
• A thinner-than-average cornea and lower corneal hysteresis (a measure of how well the cornea absorbs pressure changes), both used by clinicians to judge how closely to monitor a patient

None of these factors are within a person’s direct control the way, say, quitting smoking is for lung disease. Their real value is practical: they help a clinician decide how closely to watch a specific patient, rather than treating every adult the same way.

Be honest with yourself about one thing here. Unlike some cancers, no lifestyle change has been proven in a trial to lower genetic glaucoma risk on its own, apart from controlling eye pressure. Managing eye pressure is the one proven lever. Everything else plays a supporting role.

Think of it like managing blood pressure to prevent a stroke. You cannot erase a family history of high blood pressure, but steady monitoring and treatment change the outcome a great deal compared with doing nothing.

Ask your eye doctor for an exam schedule based on your personal and family risk, rather than defaulting to “come back next year” without that conversation.

Section recap: The Ocular Hypertension Treatment Study proved that lowering eye pressure delays or prevents open-angle glaucoma in people at higher risk, making it the field’s one evidence-based prevention strategy.

Treatment Landscape and the December 2023 FDA Approval of iDose TR

Glaucoma treatment follows a fairly predictable ladder, and it helps to know where a reader’s father or sibling likely stands on it:

• Eye drops (usually a prostaglandin-type drop) — the usual first step, lowering eye pressure daily
• A quick laser treatment called selective laser trabeculoplasty (SLT) — increasingly used early, sometimes before or alongside drops
• A small implanted device (MIGS, short for minimally invasive glaucoma surgery) — a middle step for disease that keeps progressing despite drops
• Traditional filtering surgery or a tube shunt — for advanced or harder-to-control disease

Here is the concrete, recent development worth knowing. The FDA approved iDose TR, a tiny implant placed inside the eye that slowly releases the drug travoprost, on December 14, 2023. It is the first slow-release implant approved for lowering eye pressure in open-angle glaucoma or high eye pressure. Two large trials covering 1,150 people supported the approval. In those trials, 93% of iDose TR recipients stayed well controlled without needing daily timolol eye drops through three months. That single number matters for a simple reason: sticking with daily eye drops over years is a well-documented weak point. It undermines drop-based treatment far more often than the drops failing to work.

One important boundary applies here. An eye specialist places iDose TR during an office or surgical visit. It is not something a patient gets and uses on their own. Health Canada’s approval status for iDose TR should be checked directly before assuming it is available in Canada. Review timelines differ by country, and a specific date has not been independently confirmed here.

It is worth linking this back to genetics honestly. TMCO1 and other risk gene spots from the 2023 study are being studied as possible future drug targets. No glaucoma treatment on the market today, including iDose TR, is chosen or dosed based on a gene-based score. The genetics and the treatment pipeline are, for now, running on separate, if related, tracks.

Cost is a fair thing to raise with your eye specialist before assuming any newer option fits your case. A slow-release implant like iDose TR involves an in-office procedure. It typically follows insurance approval steps similar to other implanted eye devices, which can differ a good deal from a routine pharmacy copay for a bottle of eye drops. Asking directly about your fit and likely out-of-pocket cost at your next visit avoids surprises either way.

Think of eye-drop treatment like a daily pill for a long-term condition: highly effective when taken consistently, and much less effective when it is not. An implant removes the “remembering” step from the equation entirely.

Ask your eye specialist directly whether you are a candidate for newer options like SLT or a slow-release implant. This is worth asking if you or a family member has struggled with daily eye drops.

Section recap: The FDA approved iDose TR, a slow-release implant, on December 14, 2023. In trials, 93% of people stayed controlled without daily drops through three months, addressing a real sticking-with-it problem.

Family Implications: What to Actually Tell Relatives When There Is No Single Gene to Test For

Two different family situations call for two different conversations, and mixing them up leads to either false comfort or needless alarm.

• Common, many-gene form (most adult-onset open-angle glaucoma): there is no single gene change to test relatives for one by one. The useful family action is simple and low-tech — share the diagnosis itself, the age it was caught, and whether vision loss happened before treatment started. That alone is already a recognized reason for relatives to start earlier and more frequent full eye exams.
• Early-onset, young, or present-at-birth glaucoma: this is exactly the situation where clinical gene testing for MYOC or CYP1B1 becomes useful. Here, “cascade testing” — testing biological relatives one by one once a lab finds a specific gene change in one family member — can genuinely help. It should be ordered by a clinician or genetic counselor, not a DTC company. Done that way, it can meaningfully change how closely a child or young relative gets watched going forward.

For an adult child specifically, here is a concrete script worth using. Tell them your parent’s diagnosis and the age it was caught, not your own 23andMe percentile. Then suggest they ask their own eye doctor about starting full eye exams at whatever schedule that doctor recommends, given the family history you just gave them.

Think of it like passing along a specific street address rather than a general neighborhood description. “Grandpa was diagnosed at 61 and lost some side vision before treatment caught up” gives a doctor something concrete to act on. A percentile score does not.

A board-certified genetic counselor, found through the National Society of Genetic Counselors at NSGC.org, can help here. That conversation can sort out whether a specific family pattern looks more like the common, many-gene form or the rarer single-gene path.

Section recap: For the common, many-gene form of glaucoma, share the family diagnosis and age of onset, not a DTC score. For early-onset or present-at-birth cases, clinical testing of MYOC or CYP1B1 in relatives — cascade testing, guided by a genetic counselor — is where it becomes genuinely useful.

Insurance, Privacy, and the Fear of Blindness: GINA’s Coverage and Its Gaps

Fear of going blind after watching a parent lose vision is a reasonable reaction, not an overreaction, and it deserves a direct, honest answer rather than being brushed aside.

Here is the honest reassurance first. With modern eye-pressure-lowering treatment, most people diagnosed with glaucoma today do not go blind, especially when it is caught before the optic nerve is badly damaged. That is exactly the argument for regular, well-timed eye exams over quiet worry about a DTC score: catching the disease early is what actually changes the outcome.

On privacy, there is real protection and a real gap, and both matter. The Genetic Information Nondiscrimination Act of 2008 (GINA) bars genetic-information discrimination in US health insurance and in jobs at companies with 15 or more employees. That is a real, legally binding protection. But GINA plainly does not cover life insurance, disability insurance, or long-term-care insurance. Those are exactly the kinds of coverage a reader worried about future vision loss and its cost is most likely to shop for eventually.

Canadian readers have wider protection. Canada’s Genetic Non-Discrimination Act, passed in 2017, covers more ground than GINA on this point, and Canada’s Supreme Court upheld it in 2020.

Two practical takeaways follow from this. First, know the GINA gap before sharing a DTC result on a life or disability insurance application, since those insurers may legally be allowed to weigh it. Second, do not let that gap turn into avoiding an eye exam. Delaying diagnosis — not a DTC report sitting in an app somewhere — is the real driver of the outcome you are afraid of.

Think of GINA like a solid roof over part of a house. It fully covers health insurance and jobs, while life and disability insurance remain a section still open to the weather. Knowing exactly where the coverage stops is more useful than assuming it covers everything.

A board-certified genetic counselor, again found through NSGC.org, can help walk through any specific question here. That includes early-onset family glaucoma, a suspected MYOC or CYP1B1 finding, or how a DTC result interacts with insurance choices.

Section recap: GINA protects US health insurance and most jobs from genetic discrimination but plainly leaves out life, disability, and long-term-care insurance; Canada’s Genetic Non-Discrimination Act covers more ground.

Frequently Asked Questions

Is glaucoma hereditary?

Mostly yes, but in a specific way. Most adult open-angle glaucoma comes from many common genes acting together — 263 to 312 independent risk spots found in a 2023 study — not one single “glaucoma gene”. A minority of early-onset cases follow a clear single-gene pattern through MYOC or CYP1B1.

My father has glaucoma. Will I get it too?

Your risk is meaningfully higher than someone with no family history. That alone is already a recognized reason for earlier, more frequent full eye exams. It is a real risk factor, not a certainty, and modern treatment changes outcomes a great deal when the disease is caught early.

What does my 23andMe Glaucoma report actually mean?

It is a gene-based likelihood category under 23andMe’s Health Predisposition Polygenic Reports, a population-relative statistical statement. It is not a diagnosis and does not replace eye-pressure checks, optic-nerve imaging, or side-vision testing.

Will this affect my health or life insurance?

In the US, GINA protects health insurance and most jobs from genetic discrimination, but it plainly leaves out life, disability, and long-term-care insurance. Canada’s Genetic Non-Discrimination Act, upheld by that country’s Supreme Court in 2020, covers more ground.

Can my employer find out about my result?

GINA specifically bars employers with 15 or more employees from asking for or using a genetic test result like a glaucoma likelihood score. That protection covers hiring, firing, and promotion decisions.

Should I get a second opinion or bring my DNA result to a specialist?

Yes. A 23andMe result is a statistical likelihood, not a diagnosis. Bring it, along with your family history, to a full, dilated eye exam so it can be weighed against your actual eye pressure, optic-nerve imaging, and side-vision results. A board-certified genetic counselor, found through NSGC.org, can help explain what the result does and does not mean, especially for early-onset family patterns.

Summary

Glaucoma genetics have two honest, coexisting answers. For most adults, open-angle glaucoma comes from many genes acting together. A 2023 study mapped it to 263 independent risk spots in European-ancestry data and 312 in a broader analysis. That analysis was confirmed in 98% of cases in a group of over 2.8 million people. A much rarer, separate path runs through single-gene changes: MYOC for the autosomal-dominant, usually early-onset form, and CYP1B1 for the autosomal-recessive form present at birth.

A 23andMe gene-based result reflects that common, many-gene pattern. It is a population-relative likelihood, not a diagnosis, and it does not replace eye-pressure checks, drainage-angle checks, optic-nerve imaging, or side-vision testing. Roughly 1 out of every 100 people in the US has glaucoma today, a share on track to pass 4.2 million cases by 2030. The Ocular Hypertension Treatment Study already proved the one strategy that works: lowering eye pressure delays or prevents disease in people at higher risk. The December 2023 approval of iDose TR adds a genuinely new option for people whose treatment has suffered from missed daily eye drops.

Family communication should center on a specific diagnosis and age of onset, not a DTC percentile. The exception is early-onset or present-at-birth cases, where clinical testing for MYOC or CYP1B1 — done through cascade testing of relatives — becomes genuinely useful. GINA and Canada’s Genetic Non-Discrimination Act both offer real, if incomplete, legal protection around this information. Bring any glaucoma-related genetic result, along with your family history, to a full, dilated eye exam rather than reading it alone.

This article is for educational purposes only. It is not a substitute for advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. For any decisions about testing, treatment, or care, consult a qualified clinician. In emergencies, call 911.

References

1. Gharahkhani P, Jorgenson E, Hysi P, et al. Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci. Nat Genet. 2023 Jul;55(7):1116-1125. PMID 37386247. DOI 10.1038/s41588-023-01428-5. https://pubmed.ncbi.nlm.nih.gov/37386247/
2. Burdon KP, MacGregor S, Hewitt AW, et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet. 2011 Jun;43(6):574-578. PMID 21532571. https://pubmed.ncbi.nlm.nih.gov/21532571/
3. Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997 Jan 31;275(5300):668-670. PMID 9005853. https://pubmed.ncbi.nlm.nih.gov/9005853/
4. Kass MA, Heuer DK, Higginbotham EJ, et al. The Ocular Hypertension Treatment Study: A Randomized Trial Determines That Topical Ocular Hypotensive Medication Delays or Prevents the Onset of Primary Open-Angle Glaucoma. Arch Ophthalmol. 2002;120(6):701-713. PMID 12049574. https://pubmed.ncbi.nlm.nih.gov/12049574/
5. US Food and Drug Administration. NDA 218010 approval: iDose TR (travoprost intracameral implant, Glaukos Corporation), approved 2023-12-14. https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218010s000lbl.pdf
6. National Eye Institute, National Institutes of Health. Glaucoma Data and Statistics. https://www.nei.nih.gov/learn-about-eye-health/outreach-campaigns-and-resources/eye-health-data-and-statistics/glaucoma-data-and-statistics
7. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997 Apr;6(4):641-647. PMID 9097971. https://pubmed.ncbi.nlm.nih.gov/9097971/
8. Hauser MA, Allingham RR, et al. Association of Genetic Variants with Primary Open-Angle Glaucoma among Individuals with African Ancestry. JAMA. 2019;322(17):1682-1691. PMID 31688886. https://pubmed.ncbi.nlm.nih.gov/31688886/
9. US Preventive Services Task Force. Screening for Primary Open-Angle Glaucoma: US Preventive Services Task Force Recommendation Statement. JAMA. 2022;327(20):1992-1997. https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/glaucoma-screening
10. American Academy of Ophthalmology Preferred Practice Pattern Glaucoma Committee. Primary Open-Angle Glaucoma Preferred Practice Pattern. Ophthalmology. 2026 Feb. https://www.aao.org/education/preferred-practice-pattern/primary-open-angle-glaucoma-ppp
11. Genetic Information Nondiscrimination Act of 2008, Pub. L. 110-233 (US); Genetic Non-Discrimination Act, S.C. 2017, c. 3 (Canada); Reference re Genetic Non-Discrimination Act, 2020 SCC 17 (Supreme Court of Canada). https://www.eeoc.gov/genetic-information-discrimination
12. National Society of Genetic Counselors. Position statements on direct-to-consumer genetic testing; Find a Genetic Counselor directory. https://www.nsgc.org/policy/position-statements

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Last updated: 2026-09-13

Author: Yu Mizuno (Editor-in-Chief, non-physician), GeneLumen editorial team. This article aggregates 12 sources from peer-reviewed medical literature and public health agencies (tier 1=8 / tier 2=4), including the NIH National Eye Institute, the FDA, the US Preventive Services Task Force, the American Academy of Ophthalmology, and PubMed-indexed publications. Editorial lead: Yu Mizuno, non-physician research editor.

This article is for educational purposes only and is not a substitute for medical advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. In emergencies, call 911 (US/Canada) or 119 (Japan).

Related: Genetic Diseases category

🌐 日本語版 / Japanese version: https://genelumen.com/ja/ja-genetic-diseases/glaucoma-genetic-risk-jp