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Curr Opin Ophthalmol. 2014 Sep;25(5):386-93. doi: 10.1097/ICU.0000000000000090.

Genome-wide association study success in ophthalmology.

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aLions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia bCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria cSchool of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.



Much progress in our understanding of the genetic profile of many ophthalmic diseases has been made over the last decade. Identification of novel gene associations allows insight into the mechanisms of disease and potentially enables the identification of individuals at increased risk, as well as facilitating the development of new treatments. We highlight key recent discoveries using the genome-wide association study design.


Over the last 2 years, we have seen major international collaborations successfully conduct genome-wide association study to identify genetic pathways associated with eye diseases, such as myopia, age-related macular degeneration and glaucoma. Similarly other studies have identified and confirmed genes associated with ocular biometry or disease-specific endophenotypes.


Our understanding of the genetic architecture of common eye diseases, such as myopia, age-related macular degeneration and glaucoma, is rapidly expanding. With reducing costs of next-generation sequencing, we expect a transition to large-scale interrogation at the whole exome and genome level, which will enable the identification of rare variants which confer a level of sensitivity and specificity to predict risk that will allow us to further understand, predict and intervene in genetic-based eye diseases.

[Indexed for MEDLINE]

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