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A Novel Mutation at Codon 124 (R124L) in the BIGH3 Gene Is Associated With a Superficial Variant of Granular Corneal Dystrophy
Yukihiko Mashima, MD;
Yu Nakamura, MD;
Kohsuke Noda, MD;
Minako Konishi, MD;
Masakazu Yamada, MD;
Jun Kudoh, PhD;
Nobuyoshi Shimizu, PhD
Arch Ophthalmol. 1999;117:90-93.
Objective To identify the mutation in a human transforming growth factor  –induced gene (BIGH3) in a Japanese family with a severe form of granular corneal dystrophy of early onset associated with recurrent corneal erosions.
Patients The tentative clinical diagnosis in this family was Reis-Bücklers corneal dystrophy; 4 persons affected with this disorder have been identified in 4 generations, and 3 of the 4 were examined. The proband underwent keratoplasties in our hospital (Keio University Hospital, Tokyo, Japan).
Methods The BIGH3 gene was examined for a mutation by the polymerase chain reaction and direct sequencing. Corneal buttons of the proband were stained and examined by electron microscopy.
Results Three affected persons were shown to have a heterozygous G T transversion at the second nucleotide position of codon 124 (ArgLeu) of the BIGH3 gene. In the proband, corneal deposits between the epithelium and the Bowman layer stained red with Masson trichrome stain. Electron microscopy revealed numerous electron-dense, rod-shaped bodies next to the epithelial basement membrane but no curly fibers suggestive of Thiel-Behnke dystrophy.
Conclusion A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy.
Clinical Relevance This mutation causes a severe form of superficial granular corneal dystrophy by producing abnormal keratoepithelin between the epithelium and the Bowman layer and thus clinical similarities to Reis-Bücklers corneal dystrophy.
From the Departments of Ophthalmology (Drs Mashima, Nakamura, Noda, Konishi, and Yamada) and Molecular Biology (Drs Kudoh and Shimizu), Keio University School of Medicine, Tokyo, Japan.
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