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The Genetic Background of Keratoconus: A Review on Keratoconus Genes

Marilita M Moschos, Maria Gazouli and Eirini Nitoda

Keratoconus is a chronic, bilateral, usually asymmetrical, non-inflammatory, ectatic disorder, being characterized by progressive steepening, thinning and apical scarring of the cornea. It affects approximately 1 in every 2000 individuals, but its incidence seems to be increased with the clinical use of corneal topography. Keratoconus is considered as a multifactorial disease, caused by the interaction between several genes, microRNAs and environmental factors, including eye rubbing, atopy, sun exposure, geographic location and race. Although the disease is usually sporadic, a genetic predisposition and raised incidence in familial and monozygotic twins have been described. Given that the diagnosis of the disease is based on a anterior eye assessment, the identification of certain genes could be an additional diagnostic tool. Furthermore, it may pave the way for the gene therapy of the disease.