May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Familial Keratoconus in an Ecuadorian Population
Author Affiliations & Notes
  • B. A. Bejjani
    Health Research & Edu Center, Washington State University, Spokane, Washington
  • D. Winters
    Health Research & Edu Center, Washington State University, Spokane, Washington
  • A. Molinari
    Hospital Metropolitano, Quito, Ecuador
  • M. H. Chahrour
    Baylor College of Medicine, Houston, Texas
  • K. A. Bailey
    Health Research & Edu Center, Washington State University, Spokane, Washington
  • M. A. Rydzanicz
    Health Research & Edu Center, Washington State University, Spokane, Washington
  • S. M. Leal
    Baylor College of Medicine, Houston, Texas
  • R. A. Lewis
    Baylor College of Medicine, Houston, Texas
  • M. M. Gajecka
    Health Research & Edu Center, Washington State University, Spokane, Washington
  • Footnotes
    Commercial Relationships B.A. Bejjani, None; D. Winters, None; A. Molinari, None; M.H. Chahrour, None; K.A. Bailey, None; M.A. Rydzanicz, None; S.M. Leal, None; R.A. Lewis, None; M.M. Gajecka, None.
  • Footnotes
    Support NIH Grant EY015428-01
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 1330. doi:https://doi.org/
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    • Get Citation

      B. A. Bejjani, D. Winters, A. Molinari, M. H. Chahrour, K. A. Bailey, M. A. Rydzanicz, S. M. Leal, R. A. Lewis, M. M. Gajecka; Familial Keratoconus in an Ecuadorian Population. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1330. doi: https://doi.org/.

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

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Abstract

Purpose:: Keratoconus (KC) is a non-inflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and altered visual acuity. Although both genetic and non-genetic factors have been associated with KC, its molecular basis is still elusive. We identified an Ecuadorian cohort in which KC without other ocular or systemic features is transmitted as an autosomal dominant trait with incomplete penetrance. Here we present the results of linkage analyses and sequencing in Ecuadorian families.

Methods:: To date, we have examined, collected blood, and purified DNA from 181 individuals from 25 multiplex families with KC. Subjects were diagnosed clinically with KC by slit lamp examination and corneal topography. We excluded previously assigned KC loci on chromosomes 3, 15, 16, and 20 by linkage analysis. Additionally, the coding exons of VSX1 and SOD1 in affected individuals from the Ecuadorian families and ethnically matched control individuals were sequenced. We performed genome wide screen with fluorescent markers with an average spacing of 5 cM spanning all chromosomes.

Results:: Keratoconus in Ecuadorian families is not linked to any of the previously defined KC loci. We excluded VSX1 as a candidate for KC in this population. SOD1 sequencing analysis is in progress.

Conclusions:: Gene for keratoconus in Ecuadorian families has not been yet identified. Further genotyping will be performed.

Keywords: gene mapping • keratoconus • linkage analysis 
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