TGFBI corneal dystrophies: Thiel-Behnke corneal dystrophy (TBCD)

Kyung Eun Han; Yong Woo Ji; Kyoung Yul Seo

doi:10.1007/978-981-96-0131-8_3

TGFBI corneal dystrophies: Thiel-Behnke corneal dystrophy (TBCD)

Kyung Eun Han, Yong Woo Ji, Kyoung Yul Seo

Department of Ophthalmology

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

Abstract

Thiel-Behnke corneal dystrophy (TBCD) is an autosomal dominantly inherited stromal corneal dystrophy associated with an R555Q (Arg555Gln) mutation in the TGFBI gene on chromosome 5q31. In 1967, Thiel and Behnke first described this corneal dystrophy, in which corneal deposits accumulate primarily in Bowman's layer (Thiel and Behnke 1967). The deposits are different than those of Reis-Bücklers corneal dystrophy (RBCD). TBCD was also called as Grayson-Wilbrandt corneal dystrophy and corneal dystrophy Bowman 2 (CDB2) at one time, but these terms are no longer used.

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	13-20
Number of pages	8
ISBN (Electronic)	9789819601318
ISBN (Print)	9789819601301
DOIs	https://doi.org/10.1007/978-981-96-0131-8_3
State	Published - 20 Feb 2025

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abstract = "Thiel-Behnke corneal dystrophy (TBCD) is an autosomal dominantly inherited stromal corneal dystrophy associated with an R555Q (Arg555Gln) mutation in the TGFBI gene on chromosome 5q31. In 1967, Thiel and Behnke first described this corneal dystrophy, in which corneal deposits accumulate primarily in Bowman's layer (Thiel and Behnke 1967). The deposits are different than those of Reis-B{\"u}cklers corneal dystrophy (RBCD). TBCD was also called as Grayson-Wilbrandt corneal dystrophy and corneal dystrophy Bowman 2 (CDB2) at one time, but these terms are no longer used.",

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TGFBI corneal dystrophies: Thiel-Behnke corneal dystrophy (TBCD)

Abstract

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