Contributions of VSX1 gene to keratoconus.

Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial degenerative corneal disorder, with incidence of approximately 1 per 2000 of the population. KC follows an autosomal recessive or dominant pattern of inheritance and is, apparently, associated with genes which interact with environmental, genetic and/or other factors. The present report focuses on the VSX1 gene, for which there is general agreement that it is involved in KC and other corneal pathologies, and critically details the evidence for its involvement in KC.