December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Survey of a Large Thai Family with Lattice Corneal Dystrophy for Mutations in the ßIG-H3 Gene
Author Affiliations & Notes
  • L-O Atchaneeyasakul
    Siriraj Hospital Mahidol University Bangkok Thailand
    Ophthalmology
  • B Appukuttan
    Ophthalmology Casey Eye Institute Oregon Health Sciences University Portland OR
  • T McFarland
    Ophthalmology Casey Eye Institute Oregon Health Sciences University Portland OR
  • JT Stout
    Ophthalmology Casey Eye Institute Oregon Health Sciences University Portland OR
  • P Wichyanuwat
    Biochemistry
    Siriraj Hospital Mahidol University Bangkok Thailand
  • P-T Yenchitsomanus
    Research and Development
    Siriraj Hospital Mahidol University Bangkok Thailand
  • A Trinavarat
    Siriraj Hospital Mahidol University Bangkok Thailand
    Ophthalmology
  • Footnotes
    Commercial Relationships   L. Atchaneeyasakul, None; B. Appukuttan, None; T. McFarland, None; J.T. Stout, None; P. Wichyanuwat, None; P. Yenchitsomanus, None; A. Trinavarat, None. Grant Identification: The Clayton Foundation for Research and Research to Prevent Blindness
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 1733. doi:
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    • Get Citation

      L-O Atchaneeyasakul, B Appukuttan, T McFarland, JT Stout, P Wichyanuwat, P-T Yenchitsomanus, A Trinavarat; Survey of a Large Thai Family with Lattice Corneal Dystrophy for Mutations in the ßIG-H3 Gene . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1733.

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

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Abstract

Abstract: : Purpose: To characterize the genetic defect responsible for lattice corneal dystrophy (LCD) in a large five generation Thai family consisting of approximately 200 individuals. Method: A thorough ophthalmic examination of individuals from a large Thai family with lattice corneal dystrophy was performed. Histopathology was performed on corneas obtained from 2 affected patients. All subjects were examined by slit lamp biomicroscope to detect subtle changes in the corneal stroma. After a consent form was completed, blood was drawn from affected and unaffected patients from 57 members of this large family. Genomic DNA was isolated from the blood sample. This genomic DNA was used to amplify the exons of the transforming growth factor-beta-induced gene (ßig-H3 gene). Amplified products were run on an agarose gel and purified for sequencing on an ABI 310. Results: Clinical examination of this very large five-generation family identified 47 individuals affected with LCD phenotype. The pedigree is consistent with an autosomal dominant inheritance. Amyloid deposition in the corneal stroma was confirmed by histopathology with Congo red staining in 2 affected family members who required penetrating keratoplasty. All exons ßig-H3 that have previously been associated with the disease have been sequenced and are negative.for causative mutations. Conclusions: Lattice corneal dystrophy is the most common form of heritable stromal corneal dystrophies. Inheritance pattern is autosomal dominant and this type is linked to chromosome 5q31. The gene associated with type I, type IIIA, type IIIA-like and type IV lattice corneal dystrophy is the ßig-H3 gene, which encodes the kerato-epithelin protein. We have an opportunity to evaluate the genetic defect segregating with a large Thai family with lattice corneal dystrophy type I. We are continuing to sequence the remainder of the ßig-H3 gene and are performing linkage analysis to other known corneal dystrophy loci.

Keywords: 374 cornea: stroma and keratocytes • 385 degenerations/dystrophies • 420 genetics 
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