Is Keratoconus Genetic?
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.
Epigenetic mechanisms might help explain environmental contributions to the pathogenesis of keratoconus. Eye & Contact Lens. November 2014.
Page published in January 2019
Page updated in November 2021