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      Role of Genetic Factors in Lower- and Higher-Order Aberrations – The Genes in Myopia Twin Study

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          Aims: We intended to investigate the relative genetic contribution in wavefront aberrations using a sub-group of twins recruited in the Genes in Myopia twin study, and subsequently provide direction for future studies into the aetiology of mono-chromatic aberrations. To our knowledge, the Genes in Myopia twin study is the first study to explore the role of genetic factors in both lower- and higher-order aberrations in a Caucasian population. Methods: Each individual completed a general questionnaire and underwent a comprehensive eye examination. Higher-order wavefront aberrations were calculated with Zernike coefficients up to the fourth order. Results: A total of 46 twin pairs with a mean age of 65.3 years were included in the analysis. Monozygotic intra-pair correlations were significantly higher compared to those in dizygotic twin pairs for defocus aberrations (p < 0.05). A trend for a genetic component was identified for higher-order aberrations. Conclusion: Genetic studies into refraction typically explore the genetic effects of lower-order aberrations such as myopia and hypermetropia; however, there is little to no research into the genetic basis of higher-order aberrations. The Genes in Myopia twin study indicates a potential genetic role for higher-order aberrations and provides useful insights into the aetiology of refractive error.

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          Most cited references 20

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          A zygosity questionnaire for young twins: a research note.

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            Complex trait genetics of refractive error.

            Refractive errors (myopia, hyperopia, and astigmatism) are complex heterogeneous disorders of the human eye and are ideal for genetic investigation. Moderate to severe refractive errors can predispose individuals to poor visual development, various types of glaucoma, misshapen corneal surfaces, premature cataracts, and loss of retinal integrity, which can lead to detachment. Knowledge of genetic mechanisms involved in refractive error susceptibility may allow treatment to prevent progression or to further examine gene-environment interactions. Early genetic predisposition detection for developing severe refractive errors may be useful for efficient and cost-effective screening program design. This review explores the genetic mechanisms associated with nonsyndromic refractive error development known to date.
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              Statistical variation of aberration structure and image quality in a normal population of healthy eyes


                Author and article information

                Ophthalmic Res
                Ophthalmic Research
                S. Karger AG
                April 2009
                26 March 2009
                : 41
                : 3
                : 142-147
                aCentre for Eye Research Australia, University of Melbourne, Melbourne, Vic., and bVision CRC, Sydney, N.S.W., Australia
                209667 Ophthalmic Res 2009;41:142–147
                © 2009 S. Karger AG, Basel

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                Figures: 1, Tables: 2, References: 29, Pages: 6
                Original Paper


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