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Genetic and environmental risk factors for keratoconus

Lucas, SEM ORCID: 0000-0003-0104-5406 and Burdon, KP ORCID: 0000-0001-8217-1249 2020 , 'Genetic and environmental risk factors for keratoconus' , Annual Review of Vision Science, vol. 6 , pp. 25-46 , doi: 10.1146/annurev-vision-121219-081723.

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Keratoconus, a progressive corneal ectasia, is a complex disease with both genetic and environmental risk factors. The exact etiology is not known and is likely variable between individuals. Conditions such as hay fever and allergy are associated with increased risk, while diabetes may be protective. Behaviors such as eye rubbing are also implicated, but direct causality has not been proven. Genetics plays a major role in risk for some individuals, with many large pedigrees showing autosomal inheritance patterns. Several genes have been implicated using linkage and follow-up sequencing in these families. Genome-wide association studies for keratoconus and for quantitative traits such as central corneal thickness have identified several genetic loci that contribute to a cumulative risk for keratoconus, even in people without a family history of the disease. Identification of risk genes for keratoconus is improving our understanding of the biology of this complex disease.

Item Type: Article
Authors/Creators:Lucas, SEM and Burdon, KP
Keywords: complex disease, corneal ectasia, genetics, inherited eye disease, keratoconus
Journal or Publication Title: Annual Review of Vision Science
Publisher: Annual Reviews
ISSN: 2374-4650
DOI / ID Number: 10.1146/annurev-vision-121219-081723
Copyright Information:

Copyright 2020 Annual Reviews

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