title: The genetic and environmental factors for keratoconus.
abstract: 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.
authors.affiliation: Department of Optometry and Vision Science, Hadassah Academic College, 9101001 Jerusalem, Israel.
authors.forename: Ariela
authors.initials: A
authors.lastname: Gordon-Shaag
authors.affiliation: School of Optometry, The Hong Kong Polytechnic University, Hung Hom, Hong Kong.
authors.forename: Michel
authors.initials: M
authors.lastname: Millodot
authors.affiliation: Department of Optometry and Vision Science, Hadassah Academic College, 9101001 Jerusalem, Israel.
authors.forename: Einat
authors.initials: E
authors.lastname: Shneor
authors.affiliation: Department of Cellular Biology and Anatomy, The Medical College of Georgia, Georgia Regents University, Augusta, GA 30912, USA.
authors.forename: Yutao
authors.initials: Y
authors.lastname: Liu
mesh_terms: D001251:Astigmatism / Q000209:etiology / Q000235:genetics / Q000473:pathology; D004781:Environmental Exposure / Q000009:adverse effects*; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D006801:Humans; D007640:Keratoconus / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009216:Myopia / Q000209:etiology / Q000235:genetics / Q000473:pathology