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Unusual Phenotype of an Individual With the R124C Mutation in the TGFBI Gene
Arch Ophthalmol. 2004;122:1224-1227.
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We describe here an unusual phenotype associated with the arginine-124 cysteine (R124C) mutation of the TGFBI gene. The proband was a 44-year-old woman who exhibited translucent lattice lines and circular central epithelial opacity in both corneas and who had a typical history of recurrent corneal erosions. She and members of her family harbored the R124C mutation of TGFBI, which has been implicated as a genetic change responsible for lattice corneal dystrophy (LCD) type I. We performed keratoplasty on her left eye and examined the removed tissue histopathologically. Light microscopy revealed deposition of mucopolysaccharide and disruption of the Bowman layer, but no Congo red–positive component was detected. Furthermore, apple-green dichroism was not apparent with polarized microscopy. Electron microscopy revealed numerous vacuoles within keratocytes as well as separated collagen fibrils, but no amyloid fibrils, in the stroma. The R124C mutation of TGFBI is thus not necessarily associated with amyloid deposition.
Point . . . [Full Text of this Article] Report of a Case
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Naoyuki Morishige, MD, PhD;
Tai-ichiro Chikama, MD, PhD;
Yoshitsugu Ishimura, MD;
Teruo Nishida, MD, DSc;
Mutsuo Takahashi, MD, PhD;
Yukihiko Mashima, MD
Correspondence: Dr Morishige, Department of Biomolecular Recognition and Ophthalmology, Yamaguchi University School of Medicine, 1-1-1 Minami-Kogushi, Ube, Yamaguchi 755-8505, Japan (morishig@yamaguchi-u.ac.jp).
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