[Histopathological study of lattice corneal dystrophy with L 527 R mutation of transforming growth factor-beta induced gene].
OBJECTIVE
A histopathological study of lattice corneal dystrophy with L 527 R mutation of exon 12 on transforming growth factor-beta induced gene(TGFBI).


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.


CONCLUSIONS
Lattice corneal dystrophy due to L 527 R mutation showed histopathological findings similar to those of lattice corneal dystrophy type III.
Nakagawa
Emiko
E
Department of Ophthalmology, Nihon University, School of Medicine, 30-1 Oyaguchikami-machi, Itabashi-ku, Tokyo 173-8610, Japan.
Sakimoto
Tooru
T
Inada
Noriko
N
Shoji
Jun
J
Sawa
Mitsuru
M
Kanno
Hitoshi
H
Nakagawa
Shigeki
S
D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein