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Genetic and environmental risk factors for keratoconus

journal contribution
posted on 2023-05-20, 19:20 authored by Sionne LucasSionne Lucas, Kathryn BurdonKathryn Burdon
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.

History

Publication title

Annual Review of Vision Science

Volume

6

Pagination

25-46

ISSN

2374-4650

Department/School

Menzies Institute for Medical Research

Publisher

Annual Reviews

Place of publication

United States

Rights statement

Copyright 2020 Annual Reviews

Repository Status

  • Restricted

Socio-economic Objectives

Diagnosis of human diseases and conditions

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