title: An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
abstract: Autosomal dominant granular corneal dystrophy is a stromal corneal dystrophy characterized by discrete granular opacities that cause recurrent corneal erosion and blurred vision. Four different corneal dystrophies, including granular dystrophy, are caused by mutations of the BIGH3 gene. We report a case of autosomal dominant granular corneal dystrophy in a 45-year-old woman with bilateral blurred vision and recurrent eye pain since adolescence. Numerous diffuse granular opacities were found in the superficial stroma of the cornea. Her 3 sons had a similar history and clinical presentation. Autosomal dominant granular corneal dystrophy was diagnosed. Mutation analysis by single-strand conformation polymorphism and direct sequencing in 2 of the affected family members revealed R555W mutation in the BIGH3 gene. This independent R555W mutation has been previously found in different ethnic populations including Caucasians and Japanese with granular dystrophy of Groenouw type I. These findings indicate the importance of R555 amino acid in the pathogenesis of autosomal dominant granular corneal dystrophy.
authors.affiliation: Department of Ophthalmology, National Taiwan University Hospital, College of Medicine, National Taiwan University, No. 7 Chung-Shan South Road, Taipei, Taiwan.
authors.forename: Yu-Chih
authors.initials: YC
authors.lastname: Hou
authors.forename: Fung-Rong
authors.initials: FR
authors.lastname: Hu
authors.forename: Muh-Shy
authors.initials: MS
authors.lastname: Chen
mesh_terms: D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein