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

doi:10.1016/j.jcjo.2019.03.007

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

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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.

Original language	English
Pages (from-to)	e308-e311
Number of pages	4
Journal	Canadian Journal of Ophthalmology
Volume	54
Issue number	6
Early online date	30 Apr 2019
DOIs	https://doi.org/10.1016/j.jcjo.2019.03.007
Publication status	Published (in print/issue) - 1 Dec 2019

Keywords

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

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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{\textregistered}) (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",

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doi = "10.1016/j.jcjo.2019.03.007",

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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 - 2019/12/1

Y1 - 2019/12/1

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

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U2 - 10.1016/j.jcjo.2019.03.007

DO - 10.1016/j.jcjo.2019.03.007

M3 - Article

C2 - 31836123

SN - 1715-3360

VL - 54

SP - e308-e311

JO - Canadian Journal of Ophthalmology

JF - Canadian Journal of Ophthalmology

IS - 6

ER -

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

Abstract

Keywords

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