Abstract
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.
Highlights
Keratoconus is a chronic, bilateral, usually asymmetrical, noninflammatory, ectatic disorder, being characterized by progressive steepening, thinning and apical scarring of the cornea [1]
Keratoconus is considered as a multifactorial disease, caused by the interaction between several genes and environmental factors
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
Summary
Keratoconus is a chronic, bilateral, usually asymmetrical, noninflammatory, ectatic disorder, being characterized by progressive steepening, thinning and apical scarring of the cornea [1]. Besides the alterations of the collagen, the disturbances of cell junctions have been associated with decreased levels of transforming growth factor beta (TGF-β) [14]. The increased susceptibility of keratoconic corneas to injury has been related to changes in the expression of genes associated with wound healing, including the nerve growth factor and the visual system homeobox 1 (VSX1) [16].
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