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S.A. Rayner, V.S. Yellore, A.J. Aldave; Mutation Screening of the COL8A2 Gene in Familial Fuchs Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4942.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To investigate the genetic basis of familial Fuchs endothelial corneal dystrophy (FECD) through screening of the COL8A2 gene, in which mutations have been associated with FECD. Methods: DNA extraction, PCR amplification and direct sequencing of the COL8A2 gene was performed in affected members of five unrelated families with two or more members diagnosed with Fuchs corneal dystrophy. Results: In the COL8A2 gene, the previously identified mutations presumed to play a pathogenic role in cases of familial Fuchs corneal dystrophy (Arg155Gln and Gln455Lys) were not discovered in any of the affected patients. Two coding region variants, both previously demonstrated to be nonpathogenic, were identified in one affected patient each: c.1731C>T (Pro575Leu) and c.1765C>T (Pro586Pro). Conclusions: No pathogenic mutations were identified in affected members of five pedigrees with familial Fuchs corneal dystrophy, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy.
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