May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
A Common Locus for Late–Onset Fuchs Corneal Dystrophy: Maps to 18q21.2–q21.32
Author Affiliations & Notes
  • J.D. Gottsch
    Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD
  • O.H. Sundin
    Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD
  • K.W. Broman
    Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD
  • H.H. Chang
    Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD
  • W.J. Stark
    Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD
  • E.C. L. Vito
    Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD
  • Footnotes
    Commercial Relationships  J.D. Gottsch, None; O.H. Sundin, None; K.W. Broman, None; H.H. Chang, None; W.J. Stark, None; E.C.L. Vito, None.
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5905. doi:
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    • Get Citation

      J.D. Gottsch, O.H. Sundin, K.W. Broman, H.H. Chang, W.J. Stark, E.C. L. Vito; A Common Locus for Late–Onset Fuchs Corneal Dystrophy: Maps to 18q21.2–q21.32 . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5905.

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

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Abstract

Purpose: : To identify the genetic basis of late–onset Fuchs corneal dystrophy (FCD) in three large families showing a multigenerational clustering consistent with dominant inheritance of the disease.

Methods: : Phenotypes and genotypes at 1107 STRP markers were obtained for 43 affected and 33 unaffected individuals in three large families. Two–point and multipoint genetic linkage analysis was carried out with MLINK and Simwalk 2.89.

Results: : In each family, the most significant cluster of LOD scores mapped to 18q21.2–q21.3. The highest 2–point LOD score for each family was at D18S1129, with scores of 3.36, 2.88 and 2.45. Combined analysis of all three families yielded a 2–point LOD score of 7.68 at this marker. Multipoint analysis gave a LOD score of 6.0 at D18S1129, assuming dominant inheritiance and high penetrance.

Conclusions: : FCD1 at 13qTel–q12 and FCD2, at 18q21, are the two genetic loci we have identified for late–onset FCD. Linkage to 18q21 in three large families suggests widespread involvement of FCD2 in the common late–onset form of FCD.

Keywords: gene mapping • degenerations/dystrophies • cornea: endothelium 
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