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Reprod Syst Sex Disord. 2012 Jun 3;(Suppl 6). pii: 001.

The Genetics of Keratoconus: A Review.

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  • 1Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC, USA 27710.


Keratoconus is the most common ectatic disorder of the corneal. Genetic and environmental factors may contribute to its pathogenesis. The focus of this article is to summarize current research into the complex genetics of keratoconus. We discuss the evidence of genetic etiology including family-based linkage studies, twin studies, genetic mutations, and genome-wide association studies. The genes implicated potentially include VSX1, miR-184, DOCK9, SOD1, RAB3GAP1, and HGF. Besides the coding mutations, we also highlight the potential contribution of DNA copy number variants in the pathogenesis of keratoconus. Finally, we present future directions for genetic research in the understanding of the complex genetics of keratoconus and its clinical significance. As new functional, candidate genes for keratoconus are being discovered at a rapid pace, the molecular genetic mechanisms underlying keratoconus pathogenesis will advance our understanding of keratoconus and promote the development of a novel therapy.


Association; Cornea; DOCK9; GWAS; Genetics; Keratoconus; Linkage; VSX1; miR-184

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