Brief reportLattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 → Cys mutation in the kerato-epithelin gene*
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Cited by (38)
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I
2003, American Journal of OphthalmologyCitation Excerpt :This is the first report of disease linked to changes in exon 13 of the TGFBI gene and only the third genetic mutation reported in association with classic type I LCD. Previous investigations have so consistently linked type I LCD to the Arg124Cys mutation of TGFBI that the two have become almost synonymous.3–7 Leu518Pro was reported in one Japanese family as an alternative cause of type I disease; however comparison of the clinical data suggests it to be associated with a somewhat milder phenotype.
Characteristics of the human ocular surface epithelium
2001, Progress in Retinal and Eye ResearchAn Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type i in a Chinese pedigree
2022, Indian Journal of OphthalmologyOcular Pathology: Seventh Edition
2014, Ocular Pathology: Seventh EditionDevelopment of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type i
2014, Investigative Ophthalmology and Visual ScienceIn vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies
2012, Investigative Ophthalmology and Visual Science
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Supported by a grant from the Medical Research Council of Canada, Ottawa, Ontario, Canada (P.E.N.).
Copyright © 1998 Published by Elsevier Inc.