Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

doi:10.1167/iovs.10-6497

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Article

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

Investigative ophthalmology & visual science - 1 Apr 2011

Riazuddin S Amer, McGlumphy Elyse J, Yeo William S, Wang Jiangxia, Katsanis Nicholas, Gottsch John D

Abstract excerpt

PURPOSE: Fuchs corneal dystrophy (FCD) is an autosomal dominant disease of the corneal endothelium with variable penetrance and expressivity. Recently, rs613872, an intronic variation of TCF4 associated with late-onset FCD, was reported. The present study was undertaken to examine this association in our cohort of FCD patients, to assess the significance of this finding, and to investigate the candidacy of TCF4...

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PMID: 21245398
DOI: 10.1167/iovs.10-6497
PMCID: PMC3088564

Genes

TCF4

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