Polymorphisms of some genes in Egyptian patients with keratoconus

Abstract

Keratoconus (KC) is a term that was derived from the Greek words keras (cornea) and konos (cone), and was first described in 1854. It is a non-inflammatory progressive corneal disorder, characterized by thinning of the cornea and bulging forward into a cone-shaped manner. Yet its etiology, where changes in numerous genes and environmental factors lie behind it, despite the intensive research remains elusive. KC usually starts in teenage years and develops until the fourth decade of life. Currently, about Twenty-four genes were identified as potential contributors to KC occurrence and more than 85% of the known KC-related genes are involved with other genetic disorders including glaucoma, Fuchs endothelial corneal dystrophy, posterior polymorphous corneal dystrophy, cataract, connective tissue disorders, and Down syndrome.