May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Double Mutation (R124H, N544S) of TGFBI in an Individual With Clinical Manifestations of Avellino Corneal Dystrophy
Author Affiliations & Notes
  • N. Yamada
    Ophthalmology, Yamaguchi University School of Medicine, Ube City, Japan
  • K. Kawamoto
    Ophthalmology, Yamaguchi University School of Medicine, Ube City, Japan
  • N. Morishige
    Ophthalmology, Yamaguchi University School of Medicine, Ube City, Japan
  • T.-I. Chikama
    Ophthalmology, Yamaguchi University School of Medicine, Ube City, Japan
  • T. Nishida
    Ophthalmology, Yamaguchi University School of Medicine, Ube City, Japan
  • Footnotes
    Commercial Relationships  N. Yamada, None; K. Kawamoto, None; N. Morishige, None; T. Chikama, None; T. Nishida, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1015. doi:https://doi.org/
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      N. Yamada, K. Kawamoto, N. Morishige, T.-I. Chikama, T. Nishida; Double Mutation (R124H, N544S) of TGFBI in an Individual With Clinical Manifestations of Avellino Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1015. doi: https://doi.org/.

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

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Abstract

Purpose: : The R124H mutation of the keratoepithelin gene TGFBI causes Avellino corneal dystrophy, whereas the N544S mutation of this gene gives rise to lattice corneal dystrophy type IIIA. We now report a case of a 75-year-old woman with both R124H and N544S mutations of TGFBI.

Methods: : Genomic DNA and RNA were obtained from the proband with written informed consent and were subjected to polymerase chain reaction-mediated amplification of exons 1 to 17 of TGFBI. The amplification products were directly sequenced.

Results: : Molecular genetic analysis revealed that the patient harbored both a CGC → CAC (Arg → His) mutation at codon 124 and an AAT → AGT (Asn → Ser) mutation at codon 544 of TGFBI. Slitlamp examination revealed multiple granular regions of opacity in the surface-to-middle portion of the corneal stroma in both eyes of the patient. Lattice lines were not apparent in either eye.

Conclusions: : As far as we are aware, this is the first report of a patient with a double mutation (R124H, N544S) of TGFBI causing an autosomal dominant form of corneal dystrophy. The clinical manifestations of the double mutation resembled Avellino corneal dystrophy.

Keywords: cornea: clinical science • genetics • cornea: stroma and keratocytes 
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