Article
Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family.
Cornea - 1 Jul 2018
Vahedi Farnoosh, Chung Doug D, Gee Katherine M, Chuephanich Pichaya, Aldave Anthony J
Abstract excerpt
PURPOSE: To report the identification of the collagen, type XVII, alpha 1 (COL17A1) c.3156C>T mutation associated with epithelial recurrent erosion dystrophy (ERED) in a Thai family. METHODS: Slit-lamp examination was performed to determine the affected status of each member of a Thai family, with multiple members demonstrating scattered Bowman layer opacities. After genomic deoxyribonucleic acid (DNA) was...
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