No abstract

Rare missense mutations in ZNF469, predicted to be pathogenic, occurred heterozygously, at a frequency of 23% in a keratoconus population. ZNF469 is associated with CCT in GWAS and is therefore likely to play a role in the synthesis and/or organization of corneal collagen fibers. The pathogenic changes observed either genetically predispose toward a "thin" cornea, which then becomes keratoconic, or are directly pathogenic.

Advanced keratoconus was largely asymmetric and differences in tomographic phenotype were associated with differing etiologic risk factors. Maori and Pacific ethnicities were overrepresented in this population.