Genetics and Eye Health

Genetics and Eye Health

Dad with two children

Genetics are the inherited building blocks that determine much of who we are, from our gender to our eye color. But genetics may affect more than how our eyes look-they are sometimes responsible for how our eyes function. In this blog, we’ll discuss the relationship between genetics and ocular health.

Refractive Errors 

Refractive errors, such as myopia (nearsightedness), hyperopia (farsightedness), and astigmatism are the most common forms of visual impairment. While refractive errors can be caused by environmental factors, it is believed that most refractive errors are a result of genetics. If two parents wear glasses, there is a strong likelihood that their child will need glasses as well. However, two parents who do not need glasses can still have a child with a refractive error that is inherited. These errors may be passed down from grandparents to parents, who then carry the genetic trait without symptoms, and on to the child. 

Common Eye Diseases 

There are over 300 eye diseases with known hereditary causes. The American Academy of Ophthalmology has a comprehensive list available here. Some of these include:

  • Congenital cataracts-opacity of the lens of the eye that is present at birth
  • Colorblindness-total or partial lack of cones in the retina that affects how colors are interpreted
  • Glaucoma-a group of diseases characterized by an increase in intraocular pressure which affects the optic nerve
  • Retinitis Pigmentosa-a degenerative disease that causes progressive loss of vision
  • Strabismus-misalignment of the eyes
  • Macular Degeneration-a degenerative disease that causes progressive loss of central vision, usually in those over age 50
  • Juvenile Macular Degeneration-a group of degenerative diseases that cause loss of central vision in children and young adults-includes Stargardt’s Disease, Best’s Disease, and juvenile retinoschisis
  • Corneal Dystrophies-a group of diseases characterized by a buildup of foreign material over the cornea 
  • Keratoconus-a progressive thinning of the cornea which causes it to bulge outward into a cone-like shape

Inherited diseases account for a majority of cases of infantile eye disease or impairment. Some of these problems may be diagnosed at birth, however others may not be detectable until a child has their first eye exam. It is recommended that babies see an eye doctor at 6 months of age if no obvious signs of impairment are present before then. 

What You Can Do

While you can’t change your genetics, there are steps you can take to protect yourself and your family:

  • Get regular eye exams-schedule an eye exam annually, or as recommended by your eye doctor. Many eye diseases don’t have symptoms, so your doctor will look for abnormalities and changes in your eyes. 
  • Know your family history-ask your family members if they have any eye diseases or other health problems. Telling your eye doctor about the diseases that run in your family can help them to make a fast and accurate diagnosis. 
  • Have your child’s eye examined-children should have their first eye exam at 6 months of age if no other visual symptoms are present. Early intervention is important when it comes to preventing vision loss. 

Genetic Testing

Genetic testing can not only provide a diagnosis of genetic disease, but also identify carriers of gene variants that may lead to disorders in offspring. If there is a family history of genetic disease, or a person has symptoms of genetic disease, it may be beneficial to undergo testing.  These tests may also be helpful for people who don’t know their family history, such as people who were adopted. Those seeking genetic testing may benefit from genetic counseling as well. A genetic counselor will help with preparation and interpretation of testing, provide explanation of treatment options, and assist with emotional support. More information can be found on the Centers for Disease Control website:


Knowledge about your family’s health history can be a valuable tool to share with your eye care provider. Tell your doctor about any health conditions you are aware of at your annual eye exam, and update them of any new diagnoses in your family. Even if you have no history of eye disease, or you don’t know your family’s history, seeing your eye doctor annually can help to prevent vision problems. To schedule an eye exam with Mountain View Eye Center, call or text (907) 328-2920.


American Academy of Ophthalmology,

Centers for Disease Control,

Written By: Gina Stafford, COA, LDO, ABOC

Photo by Nathan Dumlao on Unsplash

Posted in: Eye Doctor in Alaska, Eye Health Guide, Patient Education

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