Abstract | PURPOSE: PATIENT AND METHODS: The patient was a 66-year-old woman with lattice corneal dystrophy. Gene analysis and histopathological study of corneal tissue obtained at the corneal transplantation were performed. Mutation analysis was done for exon 4, 11, and 12 on the TGFBI gene by direct sequencing. A histological study was performed by light microscopy with hematoxylin- eosin staining, dylon staining, or congo red staining, and by electron microscopy. RESULTS: Gene analysis revealed L 527 R mutation of exon 12 on the TGFBI gene. Light microscopic examination showed dylon-positive and Congo red-positive amyloid deposit from the superficial to deep layer of the corneal stroma. In transmission electron microscopy, the corneal epithelial layer, the basement membrane of the epithelium, Descemet's membrane, and the corneal endothelium were normal, but irregularity of Bowman's membrane and amyloid fibers in the corneal stroma were observed. CONCLUSION:
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Authors | Emiko Nakagawa, Tooru Sakimoto, Noriko Inada, Jun Shoji, Mitsuru Sawa, Hitoshi Kanno, Shigeki Nakagawa |
Journal | Nippon Ganka Gakkai zasshi
(Nippon Ganka Gakkai Zasshi)
Vol. 108
Issue 2
Pg. 118-23
(Feb 2004)
ISSN: 0029-0203 [Print] Japan |
PMID | 15022435
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
- Extracellular Matrix Proteins
- Transforming Growth Factor beta
- betaIG-H3 protein
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Topics |
- Aged
- Corneal Dystrophies, Hereditary
(genetics, pathology)
- Exons
(genetics)
- Extracellular Matrix Proteins
(genetics)
- Female
- Humans
- Mutation, Missense
- Transforming Growth Factor beta
(genetics)
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