Genetics in Keratoconus – What is New?



Sarah Moussa*, Günther Grabner, Josef Ruckhofer, Marie Dietrich, Herbert Reitsamer
Paracelsus Medical University Salzburg, Department of Ophthalmology and Optometry, Müllner Hauptstr. 48, 5020 Salzburg, Austria


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© 2017 Moussa et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the Department of Paracelsus Medical University Salzburg, Department of Ophthalmology and Optometry, Müllner Hauptstr 48, 5020 Salzburg, Austria, Tel: +43 (662) 4482 – 58371; Fax: +43 (662) 4482 – 3703; E-mail: s.moussa@salk.at


Abstract

Background:

Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease.

Conclusion:

The review focuses on current knowledge of these genetic risk factors associated with keratoconus.

Keywords: Keratoconus, Genetics, Environmental risk factors, Non-inflammatory, Irregular astigmatism, Genomic loci.