September 1998
Volume 39, Issue 10
Free
Articles  |   September 1998
Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.
Author Affiliations
  • M Okada
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
  • S Yamamoto
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
  • Y Inoue
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
  • H Watanabe
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
  • N Maeda
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
  • Y Shimomura
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
  • Y Ishii
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
  • Y Tano
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
Investigative Ophthalmology & Visual Science September 1998, Vol.39, 1947-1953. doi:
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    • Get Citation

      M Okada, S Yamamoto, Y Inoue, H Watanabe, N Maeda, Y Shimomura, Y Ishii, Y Tano; Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.. Invest. Ophthalmol. Vis. Sci. 1998;39(10):1947-1953.

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

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Abstract

PURPOSE: To determine the mutational status of the beta ig-h3 gene in five patients from four Japanese families affected with an unusual, severe form of corneal dystrophy. In these five cases, the corneas were remarkable for confluent round opacities in the superficial stromal layer. The beta ig-h3 gene coding for keratoepithelin was recently identified as the gene responsible for 5q-linked autosomal dominant corneal dystrophies. METHODS: Genomic DNA was isolated from leukocytes of five patients with the severe form of corneal dystrophy. To screen for point mutations, exons of the beta ig-h3 gene were amplified by polymerase chain reaction and were analyzed with the single-strand conformational polymorphism technique. Subsequently, the mutations were identified by a direct sequencing method and restriction enzyme digestion analysis. RESULTS: All five patients with the severe form of corneal dystrophy had homozygous R124H keratoepithelin mutations. Histopathologic examinations of the corneas obtained from two patients with the severe form showed granular, rod-shaped deposits. CONCLUSIONS: The severe phenotype was a pathologic variant of granular corneal dystrophy (GCD). All five patients had homozygous R124H keratoepithelin mutations. The R124H keratoepithelin mutation is the same mutation recently reported to be responsible for Avellino corneal dystrophy. The homozygous R124H keratoepithelin mutations are the cause of the severe variant of GCD characterized by juvenile-onset and confluent superficial opacity.

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