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Complex Trait Genetics of Refractive Error
Terri L. Young, MD;
Ravikanth Metlapally, BS(Opt), PhD;
Amanda E. Shay, MS
Arch Ophthalmol. 2007;125(1):38-48.
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.
Author Affiliations: Departments of Ophthalmology (Drs Young and Metlapally) and Pediatrics (Dr Young) and the Center for Human Genetics (Drs Young and Metlapally and Ms Shay), Duke University Medical Center, Durham, NC.
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