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Genetic isolates in ophthalmic diseases


Sherwin, JA and Hewitt, A and Ruddle, JB and Mackey, DA, Genetic isolates in ophthalmic diseases, Ophthalmic Genetics, 29, (4) pp. 149-161. ISSN 1381-6810 (2008) [Contribution to Refereed Journal]

DOI: doi:10.1080/13816810802334341


In recent years, noteworthy gains have been made in unravelling the genetic contribution to some complex ocular diseases, principally age-related macular degeneration. Yet, a relatively poor understanding of the genetic aetiology for many other heritable blinding diseases, such as glaucoma, keratoconus and myopia, remains. Genetic isolates, populations with varying degrees of geographical or cultural seclusion, provide an effective means for investigating the molecular mechanisms involved in human diseases. This is particularly true for rare diseases in which founded alleles can be rapidly driven to a high frequency due to restriction of gene flow in the population. Recent success in complex gene mapping has resulted from the widened linkage disequilibrium (LD) in the genome of genetically isolated populations. An improved understanding of the predisposing genetic risk factors allows for enhanced screening modalities and paves the foundations for the translation of genomic technology into the clinic. This review focuses on the role population isolates have had in the investigation of genes underlying complex eye diseases and discusses their likely usefulness given the expansion of large-scale case-control association studies.

Item Details

Item Type:Contribution to Refereed Journal
Keywords:Complex disease; Founder effect; Glaucoma; Macular degeneration; Refractive error
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, A (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:95293
Year Published:2008
Web of Science® Times Cited:21
Deposited By:Medicine
Deposited On:2014-09-29
Last Modified:2014-09-29

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