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

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

25 Downloads (Pure)

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

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

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10.1016/j.jcjo.2019.03.007

Late-Onset LCD Associated TGFBI p.H626R in a Canadian Family_cleanAuthor Accepted Manuscript, 43.7 KB

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@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{\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",

month = dec,

day = "1",

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

language = "English",

volume = "54",

pages = "e308--e311",

journal = "Canadian Journal of Ophthalmology",

issn = "1715-3360",

publisher = "Canadian Ophthalmological Society",

number = "6",

}

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 - 2019/12/1

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

UR - https://www.scopus.com/pages/publications/85076029112

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

UN SDGs

Keywords

Access to Document

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Development of partner diagnostics and therapeutics for genetic eye disease

Cite this

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

Abstract

UN SDGs

Keywords

Access to Document

Other files and links

Fingerprint

Student theses

Development of partner diagnostics and therapeutics for genetic eye disease

Cite this