• Cornea/External Disease

    The authors conducted this study to investigate genetic factors that may increase susceptibility to keratoconus. They studied the genotypes of 35 individuals from six families of various ethnic backgrounds with three to five members affected by keratoconus.

    The authors generated whole-genome data on the each of the subjects using a single-nucleotide polymorphism chip method. They found that linkage analysis results were strongest for a locus on chromosome 14q24.3. This region contains a relatively small number of genes of potential interest, including VSX2, a homeobox gene known to be involved in eye development and implicated in a spectrum of ocular disorders. However, sequencing the coding region of VSX2 did not reveal a sequence variant segregating with disease in any of the families included in the study.

    The authors conclude that this is the first known report of linkage for keratoconus to 14q24.3. They say the region is likely to harbor important inheritable genetic factors that may affect susceptibility to keratoconus. However, further genetic research is needed to identify the genes responsible for keratoconus, and this may ultimately lead to improved treatment strategies.