A novel KERA mutation associated with autosomal recessive cornea plana

Ophthalmic Genet. 2004 Jun;25(2):147-52. doi: 10.1080/13816810490514397.


Purpose: To report a novel KERA mutation associated with autosomal recessive cornea plana in members of a nuclear family and to describe their ophthalmic phenotypes.

Methods: Ophthalmic examination, biometry, and direct sequencing of KERA.

Results: Five of the 6 siblings were affected and had small flat corneas, variable anterior chamber depths, and short axial lengths. The remaining brother and the 2 parents had normal ophthalmic examinations. Genetic testing revealed a novel homozygous nonsense mutation in exon 3 [937C>T] in the clinically affected individuals. The clinically unaffected parents were confirmed as carriers. The clinically unaffected sibling had no KERA mutation. This mutation leads to replacement of an arginine by a stop codon at position 313 of keratocan protein.

Conclusions: This novel point mutation in KERA is the fourth thus far described. The ocular phenotype is characteristic of autosomal recessive cornea plana.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Codon, Nonsense / genetics*
  • Corneal Diseases / genetics*
  • Corneal Diseases / pathology
  • Female
  • Genes, Recessive*
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Proteoglycans / genetics*
  • Siblings


  • Codon, Nonsense
  • KERA protein, human
  • Proteoglycans