Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family.

ABSTRACT:

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 isolated from saliva, polymerase chain reaction (PCR) amplification and Sanger sequencing were performed to screen COL17A1 and exons 4 and 12 of the transforming growth factor β-induced gene.

Results

The 67-year-old proband and her 4 siblings were examined by slit-lamp biomicroscopy, which identified bilateral subepithelial opacities in the proband and in one of the 4

SUBMITTER: Vahedi F 

PROVIDER: S-EPMC5932625 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature