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Is it Possible for Keratoconus to Run in Your Family?

While the current data and research do not show definitive evidence of a genetic component to keratoconus, studies suggest that genetic and family history may be a risk factor in this degenerative eye disorder.

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Signs of Keratoconus

Keratoconus manifests with the following symptoms:

  • distorted or blurry vision
  • eye swelling and redness
  • increased sensitivity to bright lights and glare.

While vision may be easily corrected during the early onset of this complication with standard glasses and corrective lenses, as the severity of the condition increases and the aforementioned signs worsen,  the patient may develop astigmatism or nearsightedness. 

In advanced cases certain treatments such as contact lenses and cornea cross-linking to strengthen collagen fibers, may no longer be viable options. Sometimes a patient may require scleral lenses post corneal transplantation.

 Possible Genetic Factors of Keratoconus

 Possible Genetic Factors of Keratoconus

People with the following genetic conditions may be predisposed for keratoconus:

  • Downs syndrome: Disorder of the 21st chromosome
  • Retinitis pigmentosa: Rare ocular condition involving retinal breakdown
  • Ehlers-Danlos syndrome: A connective tissue disorder
  • Asthma: Inflammation disease of the lungs and airway
  • Hay fever: A common seasonal allergy to pollen

When considering the above-mentioned conditions and possible connections with keratoconus, it is important to note that several involve complications that may lead to excessive eye-rubbing, which in turn may damage the cornea and cause this condition. 

Furthermore, people with Downs Syndrome may be more apt to engage in injurious eye-rubbing and depending on the severity of their condition, they may be less capable of communicating discomfort.

Does Family History Play A Role?

Does Family History Play A Role?

There may be a hereditary component to this condition. Studies show that approximately 1 in 10 people with keratoconus have a parent with this disorder.

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Common Questions

Yes, there is a genetic test for assessing the risk of keratoconus, known as AvaGen. This test, developed by Avellino Labs, analyzes DNA to identify genetic variations associated with an increased risk of developing keratoconus. It's important to emphasize that while AvaGen can evaluate genetic risk, it is not used to diagnose keratoconus itself.
Yes, keratoconus can affect both males and females. Although it might occur more frequently in males, girls can also develop the condition. Regular eye check-ups with a keratoconus specialist can provide targeted treatment if the condition is diagnosed.
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Summary

While there is no definitive proof of a genetic/hereditary component in patients with keratoconus, an analysis of the current research strongly suggests that there may be one. If you were diagnosed with this condition, speak with an optometrist to discuss the latest scientific research.  If you have a family history of vision complications and haven't had a comprehensive eye exam, schedule one today. To schedule a comprehensive eye exam with our eye doctor, you can reach out to your nearest Amplify EyeCare practice either via a call or in-person visit. Our team of eye care professionals is ready and equipped to provide you with the care you need.

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