Late-Onset Lattice Corneal Dystrophy Associated TGFBI p.H626R Mutation in Members of a Canadian Family

Connie Chao-Shern, Lawrence DeDionisio, Carol Chan, M. Andrew Nesbit, C. B. Tara McMullen

Research output: Contribution to journalArticle

Abstract

Within the over 70 reported Transforming Growth factor – beta induced (TGFBI) Corneal Dystrophy mutations1, more than 40 are associated with Lattice Corneal Dystrophy (LCD), subtypes I, III, IIIA and IIIB according to Human Gene Mutation Database (HGMD®) (QIAGEN, Hilden, Germany). This is a follow-up investigation to a study we published in 2018 in the Canadian Journal of Ophthalmology entitled Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy. This study reported two cases of post-LASIK and post-corneal injury exacerbated late-onset LCD, attributed to a p.H626R mutation in the TGFBI protein.2 In this follow up study, we tested 17 additional family members, excluding the deceased female in Generation II (GENII-1), to assess the mutation penetration and identify asymptomatic carriers.
LanguageEnglish
JournalCanadian Journal of Ophthalmology
Early online date30 Apr 2019
DOIs
Publication statusE-pub ahead of print - 30 Apr 2019

Fingerprint

Transforming Growth Factor beta
Mutation
Laser In Situ Keratomileusis
Ophthalmology
Germany
Databases
Wounds and Injuries
Genes
Corneal Injuries

Keywords

  • TGFBI, Late-onset Lattice Corneal Dystrophy, Genetic Testing, Family Study

Cite this

@article{09c78417e1d74925a08118319b25b3fc,
title = "Late-Onset Lattice Corneal Dystrophy Associated TGFBI p.H626R Mutation in Members of a Canadian Family",
abstract = "Within the over 70 reported Transforming Growth factor – beta induced (TGFBI) Corneal Dystrophy mutations1, more than 40 are associated with Lattice Corneal Dystrophy (LCD), subtypes I, III, IIIA and IIIB according to Human Gene Mutation Database (HGMD{\circledR}) (QIAGEN, Hilden, Germany). This is a follow-up investigation to a study we published in 2018 in the Canadian Journal of Ophthalmology entitled Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy. This study reported two cases of post-LASIK and post-corneal injury exacerbated late-onset LCD, attributed to a p.H626R mutation in the TGFBI protein.2 In this follow up study, we tested 17 additional family members, excluding the deceased female in Generation II (GENII-1), to assess the mutation penetration and identify asymptomatic carriers.",
keywords = "TGFBI, Late-onset Lattice Corneal Dystrophy, Genetic Testing, Family Study",
author = "Connie Chao-Shern and Lawrence DeDionisio and Carol Chan and Nesbit, {M. Andrew} and McMullen, {C. B. Tara}",
year = "2019",
month = "4",
day = "30",
doi = "10.1016/j.jcjo.2019.03.007",
language = "English",
journal = "Canadian Journal of Ophthalmology",
issn = "1715-3360",

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Late-Onset Lattice Corneal Dystrophy Associated TGFBI p.H626R Mutation in Members of a Canadian Family. / Chao-Shern, Connie; DeDionisio, Lawrence; Chan, Carol; Nesbit, M. Andrew; McMullen, C. B. Tara.

In: Canadian Journal of Ophthalmology, 30.04.2019.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Late-Onset Lattice Corneal Dystrophy Associated TGFBI p.H626R Mutation in Members of a Canadian Family

AU - Chao-Shern, Connie

AU - DeDionisio, Lawrence

AU - Chan, Carol

AU - Nesbit, M. Andrew

AU - McMullen, C. B. Tara

PY - 2019/4/30

Y1 - 2019/4/30

N2 - Within the over 70 reported Transforming Growth factor – beta induced (TGFBI) Corneal Dystrophy mutations1, more than 40 are associated with Lattice Corneal Dystrophy (LCD), subtypes I, III, IIIA and IIIB according to Human Gene Mutation Database (HGMD®) (QIAGEN, Hilden, Germany). This is a follow-up investigation to a study we published in 2018 in the Canadian Journal of Ophthalmology entitled Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy. This study reported two cases of post-LASIK and post-corneal injury exacerbated late-onset LCD, attributed to a p.H626R mutation in the TGFBI protein.2 In this follow up study, we tested 17 additional family members, excluding the deceased female in Generation II (GENII-1), to assess the mutation penetration and identify asymptomatic carriers.

AB - Within the over 70 reported Transforming Growth factor – beta induced (TGFBI) Corneal Dystrophy mutations1, more than 40 are associated with Lattice Corneal Dystrophy (LCD), subtypes I, III, IIIA and IIIB according to Human Gene Mutation Database (HGMD®) (QIAGEN, Hilden, Germany). This is a follow-up investigation to a study we published in 2018 in the Canadian Journal of Ophthalmology entitled Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy. This study reported two cases of post-LASIK and post-corneal injury exacerbated late-onset LCD, attributed to a p.H626R mutation in the TGFBI protein.2 In this follow up study, we tested 17 additional family members, excluding the deceased female in Generation II (GENII-1), to assess the mutation penetration and identify asymptomatic carriers.

KW - TGFBI, Late-onset Lattice Corneal Dystrophy, Genetic Testing, Family Study

U2 - 10.1016/j.jcjo.2019.03.007

DO - 10.1016/j.jcjo.2019.03.007

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SN - 1715-3360

ER -