eCite Digital Repository
Genetic and environmental risk factors for keratoconus
Citation
Lucas, SEM and Burdon, KP, Genetic and environmental risk factors for keratoconus, Annual Review of Vision Science, 6 pp. 25-46. ISSN 2374-4650 (2020) [Refereed Article]
Copyright Statement
Copyright 2020 Annual Reviews
DOI: doi:10.1146/annurev-vision-121219-081723
Abstract
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 Details
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 |
Downloads: | 0 |
Repository Staff Only: item control page