An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.

Abstract excerpt

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...

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