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:	Refereed Article
Keywords:	complex disease, corneal ectasia, genetics, inherited eye disease, keratoconus
Research Division:	Biomedical and Clinical Sciences
Research Group:	Ophthalmology and optometry
Research Field:	Ophthalmology
Objective Division:	Health
Objective Group:	Clinical health
Objective Field:	Diagnosis of human diseases and conditions
UTAS Author:	Lucas, SEM (Ms Sionne Lucas)
UTAS Author:	Burdon, KP (Professor Kathryn Burdon)
ID Code:	141792
Year Published:	2020
Web of Science® Times Cited:	2
Deposited By:	Menzies Institute for Medical Research
Deposited On:	2020-11-19
Last Modified:	2020-12-11
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