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(Investigative Ophthalmology and Visual Science. 2006;47:2820-2822.)
© 2006 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-1530
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No VSX1 Gene Mutations Associated with Keratoconus

Anthony J. Aldave,1 Vivek S. Yellore,1 Andrew K. Salem,1 Gina L. Yoo,1 Sylvia A. Rayner,1 Huiying Yang,2 George Y. Tang,2 Yoana Piconell,2 and Yaron S. Rabinowitz2

1From the Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California; and the 2Cornea Genetic Eye Institute, Cedars-Sinai Medical Center, Los Angeles, California.

PURPOSE. To determine whether mutations of the VSX1 gene play a pathogenetic role in the development of keratoconus (KTCN).

METHODS. DNA extraction, PCR amplification, and direct sequencing of the VSX1 gene were performed in 100 unrelated patients with diagnoses of clinical and topographic features of KTCN.

RESULTS. Of the four previously identified presumed pathogenic mutations in the VSX1 gene (Leu17Pro, Asp144Glu, Leu159Met, and Arg166Trp), only Asp144Glu was identified in a single affected patient. Two novel single nucleotide polymorphisms (SNPs), both resulting in synonymous substitutions, were identified: c.53G>T (Ser6Ser) in four affected patients and c.209G>T (Pro58Pro) in two affected patients. Two previously reported SNPs were also identified: c.426C>A (Arg131Ser) in one affected patient and c.581A>G (Ala182Ala) in 51 of the 100 affected patients.

CONCLUSIONS. Only one of the presumed pathogenic mutations in the VSX1 gene, Asp144Glu, was identified in a single member of the cohort of affected patients. However, as previously demonstrated, Asp144Glu is a non–disease-causing polymorphism. The absence of pathogenic mutations in the VSX1 gene in a large number of unrelated KTCN patients indicates that other genetic factors are involved in the development of this disorder.






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Copyright © 2006 by the Association for Research in Vision and Ophthalmology