Abstract
AbstractKeratoconus most likely represents complex disease, with different modes of inheritance, genetic heterogeneity, and environmental factors contributing to the disease manifestation. The relative contribution of each is subject to debate and likely varies between individuals. At one end of the spectrum, disease in some individuals is probably due entirely to environmental influences, yet at the other end is solely under the control of genetic mechanisms. However the majority of cases will most likely be the result of a genetic predisposition with precipitating environmental stressors or modifiers Over the last decade significant progress has been made in identifying genetic risk factors for keratoconus. These genetic risk factors have been identified using multiple approaches including candidate gene studies, linkage analysis, genome‐wide studies and new sequencing technologies. This presentation will summarize how the genes implicated provide clues to the molecular etiology and pathways involved in the pathogenesis of keratoconus.
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