Article
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor.
Investigative ophthalmology & visual science - 1 Sept 2010
Fukuoka Hideki, Kawasaki Satoshi, Yamasaki Kenta, Matsuda Akira, Fukumoto Akiko, Murakami Akira, Kinoshita Shigeru
Abstract excerpt
PURPOSE: Lattice corneal dystrophy (LCD) type IV (LCD4) is a late-onset corneal dystrophy with amyloid deposition at the deep stromal layer of cornea. As with other corneal dystrophies, this LCD subtype is also caused by a mutation (p. Leu527Arg) of the transforming growth factor, beta-induced (TGFBI) gene. Although LCD type I has been reported worldwide, LCD4 has been reported only in the Japanese population. In...
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