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BioMed Research International
Volume 2015, Article ID 795738, 19 pages
Review Article

The Genetic and Environmental Factors for Keratoconus

1Department of Optometry and Vision Science, Hadassah Academic College, 9101001 Jerusalem, Israel
2School of Optometry, The Hong Kong Polytechnic University, Hung Hom, Hong Kong
3Department of Cellular Biology and Anatomy, The Medical College of Georgia, Georgia Regents University, Augusta, GA 30912, USA

Received 9 October 2014; Revised 8 January 2015; Accepted 9 January 2015

Academic Editor: Hao Deng

Copyright © 2015 Ariela Gordon-Shaag et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone-shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It affects all ethnic groups and both genders. Both environmental and genetic factors may contribute to its pathogenesis. This review is to summarize the current research development in KC epidemiology and genetic etiology. Environmental factors include but are not limited to eye rubbing, atopy, sun exposure, and geography. Genetic discoveries have been reviewed with evidence from family-based linkage analysis and fine mapping in linkage region, genome-wide association studies, and candidate genes analyses. A number of genes have been discovered at a relatively rapid pace. The detailed molecular mechanism underlying KC pathogenesis will significantly advance our understanding of KC and promote the development of potential therapies.