TGFBI Corneal Dystrophies: Lattice Corneal Dystrophy with TGFBI Mutation—Classic Lattice Corneal Dystrophy (Lattice Corneal Dystrophy Type 1)

章节
发表日期：

2024年

查看全文

Kyung Eun Han,
Roo Min Jun,
Sun Woong Kim,
R. Doyle Stulting

摘要

Classic lattice corneal dystrophy (classic LCD, lattice corneal dystrophy type 1) is an autosomal dominantly inherited epithelial-stromal corneal dystrophy associated with an R124C (Arg124Cys) mutation in the TGFBI gene on chromosome 5q31. Lattice dystrophy of the cornea was first described by Biber (1890) and by Haab (1899) and Dimmer (1899). Classic LCD has also been known as Biber-Haab-Dimmer dystrophy.