Article
Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.
Transactions of the American Ophthalmological Society - 1 Jan 2006
Zhang Cheng, Bell W Robert, Sundin Olof H, De La Cruz Zenaida, Stark Walter J, Green W Richard, Gottsch John D
Abstract excerpt
PURPOSE: A rare, familial early-onset form of Fuchs corneal dystrophy (FCD) is caused by mutation in the COL8A2 gene. This study describes the aberrant pattern of distribution of collagen type VIII and basement membrane components in Descemet's membrane (DM) and endothelium of three individuals with the same L450W mutation that represent different stages of early-onset FCD. METHODS: Immunohistochemical studies...
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