Arg124Cys mutation of the βig-h 3 gene in a family with lattice corneal dystrophy

Background: Several kinds of corneal dystrophies involving mutation of the βig-h 3 gene have been reported and analysis of the genetic abnormalities underlying corneal dystrophies is in progress. We report on genetic analysis of 3 cases of lattice corneal dystrophy (LCD) in the same pedigree. Case Report: LCD was diagnosed in the proband, a 57-year-old male who had suffered from recurrent keratitis since the age of 30. This patient underwent deep lamellar keratoplasty (DLK) in the left eye. Histopathological examination of a corneal buttom revealed amyloid deposits in the shallow lamella of the stroma. LCD had previously been diagnosed in a 41-year-old female, the daughter of the proband's brother, and this patient had undergone DLK in the right eye. Because the son of the proband's niece was suffering from recurrent corneal erosions, the family was eager to have DNA analysis performed. We found that all 3 individuals in the pedigree had a heterozygous point mutation (Arg124Cys) of the βig-h 3 gene. Conclusion: In this Japanese family line with LCD, all 3 members with the condition had Arg124Cys mutation of the βig-h 3 gene.