Purchase this article with an account.
CJ Coulson, RL Ritter, MS El Agha, JP McCulley, AO Edwards; Exclusion of the COL8A2 Gene in a Large Dominant Family with Fuchs' Corneal Endothelial Dystrophy . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1731.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: To determine if mutations in the recently reported gene for corneal endothelial dystrophy were present in a large family. Methods: Haplotype analysis with flanking markers (D1S233, D1S2830, and D1S255), and direct DNA sequencing of the COL8A2 exons and flanking sequence. Results: The family of three generations with 8 affected and 7 unaffected individuals at risk exhibited dominant segregation of Fuchs' endothelial dystrophy and non-penetrance in one 74-year-old woman with an affected daughter. Haplotype analysis excluded the COL8A2 locus. Direct DNA sequencing of most of the coding region has yet to reveal any coding sequence variation in two affected individuals. Conclusion: Exclusion of the COL8A2 locus in this family by obligate recombinations between the flanking markers and disease in affected individuals demonstrates genetic heterogeneity for Fuchs' endothelial dystrophy.
This PDF is available to Subscribers Only