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Is There a Keratoconus Gene?

An important paper on the genetics of keratoconus was recently published in the journal Ophthalmic Genetics. Scientists based at the University of Antwerp (Belgium) offered a detailed look at the various genetic analysis techniques in use, and whether they could be successfully applied to finding a genetic basis for KC. The authors wrote that KC appears to be a disease continuum. It appears to have a genetic contribution, combined with environmental factors. Sometimes KC shows the characteristics of monogenic disease; in most cases it appears to be a complex disease. If KC is a continuum, and there are individuals whose disease is the result of a single gene mutation, there are many more individuals at the other end of the spectrum whose disease is caused by environmental factors in combination with a large number of small effect genetic risk factors.