Interaction of genetic and environmental risk factors in the aetiology of keratoconus

Abstract

Keratoconus (KC) is a multifactorial corneal ectasia disorder that is influenced by genetic and environmental risk factors. The manner and degree to which any risk factor contributes mechanistically to KC pathogenesis is not fully understood, despite epidemiological associations. Likewise, the relationship between genetic and environmental risk factors and how they may interact or compound upon one another to precipitate KC is largely unknown. In this review, we discuss existing research surrounding the genetic and environmental risk factors for KC, as well as the probable mechanisms driving individual risk factors such as ultraviolet radiation exposure and eye-rubbing. Additionally, we discuss the interplay between underlying genetic susceptibility to KC and contributory environmental factors. This review highlights advances in existing research in vivo and in vitro, potential underlying mechanisms and avenues for future inquiry to elucidate the multifactorial aetiology of KC.