TGFBI corneal dystrophies: Lattice corneal dystrophy with TGFBI mutation-classic lattice corneal dystrophy (lattice corneal dystrophy type 1)

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

doi:10.1007/978-981-96-0131-8_4

TGFBI corneal dystrophies: Lattice corneal dystrophy with TGFBI mutation-classic lattice corneal dystrophy (lattice corneal dystrophy type 1)

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

Department of Ophthalmology

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

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.

Original language	English
Title of host publication	TGFBI-related Corneal Dystrophies
Subtitle of host publication	Clinical Findings, Cell Biology, and Genetics
Publisher	Springer Nature
Pages	21-28
Number of pages	8
ISBN (Electronic)	9789819601318
ISBN (Print)	9789819601301
DOIs	https://doi.org/10.1007/978-981-96-0131-8_4
State	Published - 20 Feb 2025

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abstract = "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.",

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TGFBI corneal dystrophies: Lattice corneal dystrophy with TGFBI mutation-classic lattice corneal dystrophy (lattice corneal dystrophy type 1). / Han, Kyung Eun ; Jun, Roo Min; Kim, Sun Woong et al.
TGFBI-related Corneal Dystrophies: Clinical Findings, Cell Biology, and Genetics. Springer Nature, 2025. p. 21-28.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

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TGFBI corneal dystrophies: Lattice corneal dystrophy with TGFBI mutation-classic lattice corneal dystrophy (lattice corneal dystrophy type 1)

Abstract

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