One scientific view is that keratoconus is developmental (i.e., genetic) in origin. This suggests that it is the consequence of an abnormality of growth, essentially a congenital defect. Another view is that KC represents a degenerative condition. Still a third view is that KC is secondary to some disease process. A less widely held hypothesis suggests that the endocrine system may be involved. This idea gained credence from the usual appearance of the disease because it is generally first detected at puberty.
Heredity influences in KC are suggested by studies that show that approximately 13% of patients have other family members with the disease.
It has been proposed that susceptible corneas exhibit an inability to process reactive oxygen species because they lack the necessary protective enzymes (e.g., ALDH3 and superoxide dismutase). The reactive oxygen species result in an accumulation of toxic by-products such as MDA and peroxynitrites that can damage corneal proteins and trigger a cascade of events that disrupt the cornea’s cellular structure and function. This can result in corneal thinning, scarring, and apoptosis.
