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Ophthalmic Genet. 2004 Jun;25(2):147-52.

A novel KERA mutation associated with autosomal recessive cornea plana.

Author information

  • 1Department of Pediatrics, King Khaled Eye Specialist Hospital P.O. Box 7191 Riyadh 11462 Saudi Arabia. arif.khan@mssm.edu

Erratum in

  • Ophthalmic Genet. 2004 Dec;25(4):289.
  • Ophthalmic Genet. 2005 Dec;26(4):195.

Abstract

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.

PMID:
15370545
[PubMed - indexed for MEDLINE]
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