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CFH Gene and Age-Related Macular Degeneration: What Your Genotype Means for Vision Health

Age-related macular degeneration, or AMD, is a common cause of central vision loss in older adults. AMD damages the macula, the central part of the retina that gives you sharp detail for reading, driving, and recognizing faces. AMD can be dry, involving buildup of cellular debris under the retina, or wet, involving abnormal growth of blood vessels that leak fluid and blood.

The CFH gene encodes Complement Factor H, a protein that helps regulate the complement system, part of the immune system involved in clearing damaged cells and controlling inflammation. Variations in CFH can change how well Complement Factor H controls inflammation in the eye. Overactive inflammation can contribute to drusen formation and retinal cell damage seen in AMD.

How to Read This Result

  • rs800292 is a common variant in CFH linked to AMD risk.
  • Genotypes are reported as two-letter codes: GG means two copies of the effect allele, AG means one copy, and AA means no effect alleles at this position.
  • Genotype modifies risk but does not determine fate. Age, lifestyle, environment, and other genes also matter.

General Recommendations for Eye Health

Regardless of your genotype, these lifestyle and dietary habits support healthy aging and vision preservation:

  • Eat a nutrient-rich diet with leafy greens, colorful fruits and vegetables, and foods high in lutein and zeaxanthin such as spinach, kale, and corn.
  • Include omega-3 fatty acids from fatty fish like salmon, mackerel, and sardines or consider a fish oil supplement if dietary intake is low.
  • Avoid smoking and limit exposure to secondhand smoke.
  • Wear sunglasses that block UV radiation and reduce blue light exposure where appropriate.
  • Maintain healthy blood pressure and cholesterol through diet, exercise, and routine medical care.
  • Stay physically active to support overall vascular and metabolic health.
  • Schedule regular comprehensive eye exams with dilation to monitor retinal health and detect early signs of AMD.

Diet, Supplements, and Tests to Consider

  • Follow an eye-healthy dietary pattern similar to the Mediterranean diet, emphasizing fish, legumes, whole grains, nuts, and olive oil.
  • Consider a supplement containing lutein, zeaxanthin, zinc, and antioxidant vitamins if you are at increased risk or have early AMD. Discuss formulations and dosages with your eye care provider before starting.
  • Ensure adequate omega-3 intake through diet or supplements if needed.
  • Have regular eye exams including dilated fundus examination and, when indicated, optical coherence tomography or retinal imaging to track changes over time.
  • Manage cardiovascular risk factors such as high blood pressure, high cholesterol, diabetes, and obesity with your healthcare team.

Genetic Interpretation

2 effect alleles (GG) — Increased risk for AMD

If your genotype at rs800292 is GG, you carry two copies of the effect allele. This genotype is associated with an increased risk of age-related macular degeneration. The CFH variant linked to GG may reduce Complement Factor H ability to regulate inflammation in the retina. Reduced control of complement activity can contribute to buildup of cellular debris, formation of drusen, and damage to retinal cells over time.

Important points:

  • Having GG increases susceptibility but does not guarantee you will develop AMD.
  • Risk accumulates with age and is influenced by smoking, diet, systemic health, and other genetic variants.

Practical steps to reduce risk:

  • Adopt an eye-healthy diet rich in leafy greens, colorful vegetables, and omega-3 fatty acids.
  • Discuss with your eye care provider whether a targeted supplement regimen is appropriate for you, particularly formulations that include lutein, zeaxanthin, zinc, and antioxidant vitamins.
  • Quit smoking and avoid secondhand smoke.
  • Wear UV-protective sunglasses and limit unnecessary blue light exposure.
  • Keep blood pressure, cholesterol, and blood sugar under control.
  • Schedule regular dilated eye exams and retinal imaging as recommended by your ophthalmologist.

Because GG indicates higher genetic susceptibility, more frequent monitoring and early intervention when changes are detected can help preserve vision.

1 effect allele (AG) — Likely increased risk for AMD

If your genotype at rs800292 is AG, you carry one copy of the effect allele. This genotype is associated with a likely increased risk of age-related macular degeneration compared with the AA genotype. One copy of the variant may cause a modest reduction in Complement Factor H regulation, possibly contributing to low-level retinal inflammation over many years.

Important points:

  • AG increases risk modestly relative to AA but less than GG.
  • Environmental and lifestyle factors strongly influence whether AMD develops.

Practical steps to reduce risk:

  • Emphasize dietary sources of lutein and zeaxanthin, such as spinach, kale, and eggs.
  • Include omega-3 rich foods or supplements if dietary intake is low.
  • Do not smoke and protect your eyes from UV light with appropriate sunglasses.
  • Maintain regular eye exams and follow up with retinal imaging when recommended.
  • Manage cardiovascular risk factors and stay active to support retinal health.

With one effect allele, preventive lifestyle measures and routine eye care are effective approaches to lowering your overall risk.

0 effect alleles (AA) — Typical risk for AMD

If your genotype at rs800292 is AA, you carry two copies of the non-effect allele. This genotype is associated with typical population risk for age-related macular degeneration at this specific location in CFH. Complement Factor H function is likely intact with respect to control of inflammation in the retina.

Important points:

  • AA does not increase risk at this variant, but AMD can still occur due to age, other genes, or environmental factors.
  • Maintaining healthy habits remains important for long-term vision.

Practical steps to support eye health:

  • Eat a balanced diet with leafy greens, colorful produce, and omega-3 rich fish.
  • Avoid smoking and protect eyes from UV exposure.
  • Consider routine supplements only after discussing with your eye care provider, especially as you age or if early AMD signs appear.
  • Keep regular comprehensive eye exams to identify any early retinal changes.

Even with AA, proactive lifestyle and clinical monitoring help preserve vision as you age.

When to Talk with Your Healthcare Provider

  • If you notice new symptoms such as blurred or distorted central vision, dark or empty areas in your central vision, or changes in color perception, schedule an eye exam promptly.
  • Discuss your genetic results with your primary care provider or an eye specialist to integrate them into your overall risk profile and screening plan.
  • Ask about retinal imaging and whether vitamin or supplement therapy is recommended based on your age, retinal findings, and health status.

PlexusDx does not provide medical advice. This information is educational and intended to help you understand genetic predispositions. Always consult your healthcare provider or eye care specialist before making changes to medications, supplements, or health routines.