December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
VSX1: A gene for Posterior Polymorphous Dystrophy and Keratoconus
Author Affiliations & Notes
  • E Heon
    Ophthalmology Vision Science Research Program UHN Toronto ON Canada
  • KK Kopp
    Ophthalmology University of Iowa Hospitals and Clinics Iowa IA
  • R Bremner
    Ophthalmology Vision Science Research Program UHN Toronto ON Canada
  • D Rootman
    Ophthalmology Vision Science Research Program UHN Toronto ON Canada
  • RL Chow
    Developmental Biology
    The Hospital for Sick Children Toronto ON Canada
  • K Dorval
    Ophthalmology Vision Science Research Program UHN Toronto ON Canada
  • AL Vincent
    Ophthalmology Vision Science Research Program UHN Toronto ON Canada
  • C Westall
    Ophthalmology
    The Hospital for Sick Children Toronto ON Canada
  • JE Sutphin
    Ophthalmology University of Iowa Hospitals and Clinics Iowa IA
  • EM Stone
    Ophthalmology University of Iowa Hospitals and Clinics Iowa IA
  • Footnotes
    Commercial Relationships   E. Heon, None; K.K. Kopp, None; R. Bremner, None; D. Rootman, None; R.L. Chow, None; K. Dorval, None; A.L. Vincent, None; C. Westall, None; J.E. Sutphin, None; E.M. Stone, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 2871. doi:
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      E Heon, KK Kopp, R Bremner, D Rootman, RL Chow, K Dorval, AL Vincent, C Westall, JE Sutphin, EM Stone; VSX1: A gene for Posterior Polymorphous Dystrophy and Keratoconus . Invest. Ophthalmol. Vis. Sci. 2002;43(13):2871.

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

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Abstract

Abstract: : Purpose:Provide molecular characterization of posterior polymorphous dystrophy (PPD) and keratoconus (KC). Methods:VSX1 was selected as a candidate gene its coding sequence was screened for mutations by a combination of SSCP and direct sequencing. The population studied included 22 patients with PPD, 63 patients with KC, 90 patients with Fuch's corneal dystrophy and 90 patients with open angle glaucoma. Results:We identified mutations in the VSX1 homeobox gene for two distinct inherited corneal dystrophies; PPD and KC. One mutation (R166W) was responsible for KC, altered the homeodomain and impaired DNA-binding. Two other sequence changes (L159M and G160D) were associated with KC and PPD respectively and involved a region adjacent to the homeodomain. The G160D substitution, and a fourth defect affecting the highly conserved CVC domain (P247R), occurred in a child with very severe PPD who required a corneal transplant at 3 months of age. In this family, relatives with the G160D change alone had mild to moderate PPD, while P247R alone caused no corneal abnormalities. However, with either the G160D or P247R mutation, electroretinography detected abnormal function of the inner retina, where VSX1 is expressed. Conclusion:These data define the molecular basis of two important corneal dystrophies and reveal the importance of the CVC domain in the human retina.

Keywords: 370 cornea: basic science • 557 retina: proximal(bipolar, amacrine, and ganglion cells) • 605 transcription factors 
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