May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Fine Mapping of Schnyder’s Crystalline Corneal Dystrophy
J.S. Weiss; V. Theendakara; G. Tromp; S. Panchal; P. White; H. Kuivaniemi
Author Affiliations & Notes
  • J.S. Weiss
    Ophthalmology, Kresge Eye Inst Wayne St Univ, Detroit, MI, United States
  • V. Theendakara
    Center for Molecular Medicine and Genetics, Wayne St Univ School of Medicine, Detroit, MI, United States
  • G. Tromp
    Center for Molecular Medicine and Genetics, Wayne St Univ School of Medicine, Detroit, MI, United States
  • S. Panchal
    Center for Molecular Medicine and Genetics, Wayne St Univ School of Medicine, Detroit, MI, United States
  • P. White
    Pediatrics, University of Pennsylvania, Philadelphia, PA, United States
  • H. Kuivaniemi
    Pediatrics, University of Pennsylvania, Philadelphia, PA, United States
  • Footnotes
    Commercial Relationships  J.S. Weiss, None; V. Theendakara, None; G. Tromp, None; S. Panchal, None; P. White, None; H. Kuivaniemi, None.
  • Footnotes
    Support  ey12972
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 3858. doi:
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      J.S. Weiss, V. Theendakara, G. Tromp, S. Panchal, P. White, H. Kuivaniemi; Fine Mapping of Schnyder’s Crystalline Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3858.

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Abstract

Abstract: : Purpose: Schnyder's Crystalline Corneal Dystrophy(SCCD) is a bilateral corneal dystrophy characterized by subepithelial crystalline cholesterol deposits, corneal clouding and/or, arcus lipoides, which may lead to visual impairment.. A genome-wide scan with two large Finnish families of Swedish descent were used previously to map the SCCD locus to 1p34-1p36 (Sherman et al. 1996). The purpose of the current study is to refine the candidate interval and to identify putative candidate genes . Method: We undertook fine mapping by genotyping densely- spaced microsatellite markers in 10 SCCD families. Somatic cell hybrids of the affected individuals were analyzed since they allowed the unambiguous identification of the physical haplotypes in the families and the identification of the disease carrying haplotype. Results: Haplotype analyses refined the candidate interval between markers D1S2694and D1S1597. Conclusions: We have narrowed the candidate interval for SCCD to about 7Mbp.

Keywords: gene mapping • crystallins • cornea: basic science 
© 2003, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2024 Association for Research in Vision and Ophthalmology.
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