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Keratoconus, a common inherited ocular disorder resulting in progressive corneal thinning, is the leading indication for corneal transplantation in the developed world. Genome-wide association studies have identified common SNPs 100 kb upstream of  ZNF469  strongly associated with corneal thickness. Homozygous mutations in  ZNF469  and  PR domain-containing protein 5  ( PRDM5 ) genes result in brittle cornea syndrome (BCS) Types 1 and 2, respectively. BCS is an autosomal recessive generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Some individuals with heterozygous  PRDM5  mutations demonstrate a carrier ocular phenotype, which includes a mildly reduced corneal thickness, keratoconus and blue sclera. We hypothesized that heterozygous variants in  PRDM5  and  ZNF469  predispose to the development of isolated keratoconus. We found a significant enrichment of potentially pathologic heterozygous alleles in  ZNF469  associated with the development of keratoconus ( P  = 0.00102) resulting in a relative risk of 12.0. This enrichment of rare potentially pathogenic alleles in  ZNF469  in 12.5% of keratoconus patients represents a significant mutational load and highlights  ZNF469  as the most significant genetic factor responsible for keratoconus identified to date.

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469 , in keratoconus