Reproductive System & Sexual Disorders: Current Research
Open Access

Joshua Wheeler

Publications

• Review Article
  The Genetics of Keratoconus: A Review
  Author(s): Joshua Wheeler, Michael A. Hauser, Natalie A. Afshari, R. Rand Allingham, R. Rand Allingham and Yutao LiuJoshua Wheeler, Michael A. Hauser, Natalie A. Afshari, R. Rand Allingham, R. Rand Allingham and Yutao Liu
  
  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 .. View More»
  DOI: 10.4172/2161-038X.S6-001

  Abstract PDF

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