ReadYourDNA

AMD (Macular Degeneration)

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

General information

Not tailored to your result, and not medical advice

Quit or Avoid Smoking: Smoking is the modifiable exposure most consistently linked to AMD, and it acts on the same complement pathway that carries much of the genetic risk. In a cross-biobank analysis, ever-smokers carrying two copies of the CFH-region risk allele rs4388642-C had about 1.6 times the odds of AMD compared with never-smokers without it (odds ratio 1.61, 95% CI 1.45 to 1.79), and smoking interacted with the overall polygenic score on both the additive and the multiplicative scale. Participants with both a high score and a smoking history showed the most pronounced dysregulation across 18 complement proteins. The authors attribute this to smoking driving oxidative stress, inflammation and endothelial dysfunction, which are potent activators of the complement cascade. Tobacco Induced Diseases (PMC)

Eat Spinach and Leafy Greens: Lutein and zeaxanthin are carotenoids selectively concentrated in the macula, where they are thought to absorb blue light, quench free radicals and stabilize cell membranes. Across 63,443 women and 38,603 men followed for about two decades, people in the top fifth for predicted plasma lutein and zeaxanthin had roughly 40% lower risk of advanced AMD than those in the bottom fifth (relative risk 0.59, 95% CI 0.48 to 0.73), with cooked and raw spinach the dominant food source. Other food carotenoids moved the same way, including alpha-carotene and beta-carotene from carrots (relative risk 0.69 and 0.64) and beta-cryptoxanthin from oranges and orange juice (relative risk 0.73). The same study found no association with intermediate AMD, so this observational signal applies to the advanced stage only. JAMA Ophthalmology (PMC)

Eat a Mediterranean-Style Diet: A systematic review of eight studies covering 26,343 people pooled seven of them and found that medium to high adherence to a Mediterranean eating pattern was associated with lower risk of AMD overall (hazard ratio 0.82, 95% CI 0.75 to 0.90), and that medium adherence was associated with lower risk of progressing to advanced AMD (hazard ratio 0.87, 95% CI 0.81 to 0.93). The components carrying the pattern were extra virgin olive oil, fish supplying omega-3 fats, vegetables, fruit, nuts and legumes. The reviewers argued the benefit tracked the whole eating pattern rather than any single isolated nutrient. No association was seen for early AMD, and heterogeneity between studies was moderate, so the size of the effect is uncertain even though the direction is consistent. Tzu Chi Medical Journal (PMC)

Do Not Count on Supplements: For people with no signs of AMD, the evidence on supplements is not merely thin, it is negative. A Cochrane review pooling five randomized trials in 76,756 people concluded that vitamin E and beta-carotene supplements do not prevent or delay the onset of AMD, rated as high-certainty evidence, and that the same probably applies to vitamin C and the one general multivitamin tested so far. The reviewers also noted that supplements are not automatically harmless and that clear evidence of benefit is needed before they can be recommended. Antioxidant formulations are studied in a separate body of trials in people who already have diagnosed AMD, which is a clinical situation to discuss with an eye care professional. Cochrane Database of Systematic Reviews (PubMed)

Report Wavy or Distorted Vision: Early dry AMD causes no symptoms at all, which is why it is usually picked up on a comprehensive dilated eye exam rather than noticed at home. The National Eye Institute singles out one warning sign: straight lines starting to look wavy or crooked, sometimes with a blurry area or blank patch near the center of vision, which it describes as a sign of late AMD and a reason to see an eye doctor right away. If you notice that change, an eye care professional is the right person to look at it. The same page lists not smoking, regular physical activity, keeping blood pressure and cholesterol in a healthy range, and eating leafy green vegetables and fish among general ways to lower risk. National Eye Institute (NIH)

Genetics vs Environment

How much of this is genetic?

Genetics explains 60% of why people differ in this trait. The rest is environment, daily habits and chance.

Heritability estimate: Seddon et al. 2005, Archives of Ophthalmology

About AMD (Macular Degeneration)

Background and further reading

Age-related macular degeneration (AMD) is a chronic, progressive disease of the macula, the small central region of the retina responsible for sharp, straight-ahead vision used in reading, driving, and recognizing faces. It is one of the leading causes of irreversible vision loss among people over 50 in high-income countries. Early AMD is marked by yellowish deposits under the retina called drusen and is often symptomless. It can progress to two advanced forms: 'dry' (atrophic) AMD, which involves gradual loss of retinal cells, and 'wet' (neovascular) AMD, in which abnormal blood vessels grow and leak beneath the retina, causing faster and more severe central vision loss. Peripheral vision is typically preserved, so AMD rarely causes complete blindness.

Genetic Basis: AMD is one of the most strongly genetic common complex diseases, with heritability estimated at roughly 45-70% from twin and family studies. Two genomic regions account for the majority of inherited risk. The first is the complement factor H gene (CFH) on chromosome 1, where the Y402H variant (rs1061170) implicates dysregulation of the complement system, part of innate immunity, in retinal damage. The second is the ARMS2/HTRA1 locus on chromosome 10q26, one of the strongest common-variant associations known for any disease. Large genome-wide association studies have identified dozens of additional loci, many clustering in the complement cascade (C3, C2/CFB, CFI) as well as lipid-metabolism and extracellular-matrix pathways.

Environmental and Modifiable Factors: Genetics sets susceptibility, but lifestyle and environmental factors strongly influence whether AMD develops and how fast it progresses. Cigarette smoking is the most important modifiable risk factor, increasing risk severalfold and compounding genetic susceptibility. Advancing age is the dominant non-genetic driver. Other associated factors include a diet low in leafy greens and omega-3-rich fish, obesity, high blood pressure, and cumulative sunlight exposure. The Age-Related Eye Disease Studies (AREDS/AREDS2) showed that a specific antioxidant and zinc supplement formula containing lutein and zeaxanthin can slow progression from intermediate to advanced disease in some people.

How this was calculated

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

Study Details

2 published scores from 2 studies

The AMD (macular degeneration) score combines 2 polygenic scores drawn from 2 published studies.

Gorman BR (2024). Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries. Nat Genet: 1.0M

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: 117k

Further reading

Fritsche LG, et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature Genetics (2016)

Klein RJ, et al. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science (2005)

Seddon JM, et al. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Archives of Ophthalmology (2005)

Age-Related Eye Disease Study 2 (AREDS2) Research Group Lutein + zeaxanthin and omega-3 fatty acids for age-related macular degeneration. JAMA (2013)

Related Traits

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

Triglycerides: Blood fats stored in adipose tissue and used for energy - elevated levels increase cardiovascular risk.

Gout: An inflammatory arthritis caused by urate crystals in the joints, producing sudden painful flares.

LDL Cholesterol: Low-density lipoprotein cholesterol - the primary causal driver of atherosclerosis and cardiovascular disease.

Back to All Traits

Content updated August 2026.

ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.

Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026

Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com