May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
No VSX1 Gene Mutations Associated With Keratoconus
Author Affiliations & Notes
  • A.J. Aldave
    Cornea Service, Jules Stein Eye Institute/UCLA, Los Angeles, CA
  • V.S. Yellore
    Cornea Service, Jules Stein Eye Institute/UCLA, Los Angeles, CA
  • A.K. Salem
    Cornea Service, Jules Stein Eye Institute/UCLA, Los Angeles, CA
  • G.L. Yoo
    Cornea Service, Jules Stein Eye Institute/UCLA, Los Angeles, CA
  • S.A. Rayner
    Cornea Service, Jules Stein Eye Institute/UCLA, Los Angeles, CA
  • H. Yang
    Cornea Genetic Eye Institute, Cedars–Sinai Medical Center, Los Angeles, CA
  • G.Y. Tang
    Cornea Genetic Eye Institute, Cedars–Sinai Medical Center, Los Angeles, CA
  • Y. Piconell
    Cornea Genetic Eye Institute, Cedars–Sinai Medical Center, Los Angeles, CA
  • Y.S. Rabinowitz
    Cornea Genetic Eye Institute, Cedars–Sinai Medical Center, Los Angeles, CA
  • Footnotes
    Commercial Relationships  A.J. Aldave, None; V.S. Yellore, None; A.K. Salem, None; G.L. Yoo, None; S.A. Rayner, None; H. Yang, None; G.Y. Tang, None; Y. Piconell, None; Y.S. Rabinowitz, None.
  • Footnotes
    Support  Center for Keratoconus (AJA, YSR), the Emily Plumb Estate and Trust (AJA), and the Skirball Program in Molecular Ophthalmology and NEI 09052 (YSR)
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5556. doi:
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    • Get Citation

      A.J. Aldave, V.S. Yellore, A.K. Salem, G.L. Yoo, S.A. Rayner, H. Yang, G.Y. Tang, Y. Piconell, Y.S. Rabinowitz; No VSX1 Gene Mutations Associated With Keratoconus . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5556.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

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 was performed in 100 unrelated individuals diagnosed with 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 individual. Two novel single nucleotide polymorphisms (SNPs) 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 our cohort of affected individuals. However, as we have previously demonstrated that 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.

Keywords: cornea: basic science • genetics • gene screening 
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