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Is Keratoconus Genetic?

Much is still unknown about what causes the weakening and thinning of the cornea that is characteristic of keratoconus.

It appears keratoconus is partly hereditary (genetic) in origin, but that certain environmental and behavioral factors also play a role. These are called epigenetic factors.

In other words, a person may have genetic factors that puts him at greater risk for keratoconus, but the disease may not occur unless certain epigenetic factors also are involved.

The prime epigenetic factors associated with keratoconus are eye rubbing, contact lens trauma, and exposure to ultraviolet (UV) radiation.

Also, rather than being caused by a single gene mutation, researchers believe keratoconus is a complex disease that involves the interaction of multiple genetic and epigenetic factors. AAV

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Dr. Gary HeitingAbout the Author: Gary Heiting, OD, is senior editor of AllAboutVision.com. Dr. Heiting has more than 25 years of experience as an eye care provider, health educator and consultant to the eyewear industry. His special interests include contact lenses, nutrition and preventive vision care.

Page updated January 2018