How Your Genetics Can Affect Your Vision

Why family medical history matters to the health of your eyes.

There are many health conditions where family history is a risk factor—including many diseases that affect the eyes and vision

Medically reviewed in April 2022

Your “family medical history” or “family history” refers to the medical history of your family members, including your close family members as well as family members from previous generations.

Knowing your family medical history can be helpful to both you and your healthcare providers. Having a family history of a certain health condition can mean that you are at a greater risk of having that health condition or a related condition. It can also mean that if you have children, your children may be at a greater risk for certain health conditions.

Family medical history is often discussed in relation to health conditions like heart disease, diabetes, and cancer. But there are many health conditions where family history is a risk factor—including many diseases that affect the eyes and vision.

This includes common eye diseases such as age-related macular degeneration (AMD) and glaucoma, as well as refractive error conditions— myopia (nearsightedness), hyperopia (farsightedness), and astigmatism, which are a result of abnormalities in the lenses of the eyes.

Inherited retinal diseases
There are also the conditions known as inherited retinal diseases (IRDs), which are caused by genetic mutations that a person inherits from one or both parents. These mutations disrupt the normal function of the retina, a layer of light-sensitive cells located at the back of the eyeball.

One example is a group of IRDs known as retinitis pigmentosa (RP), which cause a progressive loss in night vision and peripheral vision. RP typically begins between late childhood or young adulthood.

IRDs are estimated to affect between 5 and 10 million people worldwide and are a leading cause of blindness among working age adults in some nations.

Compared to other eye diseases, IRDs are not well understood, though research is ongoing—and researchers are making progress. In 2017, the FDA approved a gene therapy that can treat a select number of IRDs related to mutations in a gene called RPE65. Other therapies are under development.

Protecting your vision
Having a family history of a condition is not a guarantee that you will have the condition yourself, only that you may be at a greater risk.

There are also many people who develop eye diseases who do not appear to have a family history. To use retinitis pigmentosa as an example (again)—in 10 to 40 percent of cases, there appear to be no affected relatives.

But knowing your family history can provide important clues when your healthcare providers are trying to diagnose a symptom. Knowing your family history can also help you understand what symptoms you need to watch out for—either in yourself, or in your own family members.

Remember, this is not limited to eye diseases. As mentioned above, family history impacts your risk of many health conditions, including conditions like cardiovascular disease and diabetes. (And it’s worth noting that both cardiovascular disease and diabetes put a person at higher risk for associated eye diseases).

The best thing you can do for the health of your eyes is to see your healthcare providers regularly, including your eye doctor, primary care provider, and any specialists you work with to manage health conditions.

Article sources open article sources

NCI Dictionary. Family Medical History.
MedlinePlus. Why is it important to know my family health history?
Cleveland Clinic. Common Eye Diseases and Vision Problems.
Byron L. Lam, Bart P. Leroy, et al. Genetic testing and diagnosis of inherited retinal diseases. Orphanet Journal of Rare Diseases, 2021. Vol. 16.
PreventBlindness.org. Eye Diseases & Conditions: Inherited Retinal Diseases.
MedlinePlus. Retinitis pigmentosa.
National Organization of Rare Disorders. Retinitis pigmentosa.
Beau J. Fenner, Tien-En Tan, et al. Gene-Based Therapeutics for Inherited Retinal Diseases. Frontiers in Genetics. January 7, 2022. 
U.S. Food & Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss. December 18, 2017.
Josef Flammer, Katarzyna Konieczka, et al. The eye and the heart. European Heart Journal, 2013. Vol. 34, No. 17.
National Eye Institute. Diabetic Retinopathy.
American Academy of Ophthalmology. Early Signs of Heart Disease Appear in the Eyes.

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