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 languageEnglish
Pages (from-to)e308-e311
Number of pages4
JournalCanadian Journal of Ophthalmology
Volume54
Issue number6
Early online date30 Apr 2019
DOIs
Publication statusPublished - 1 Dec 2019

Keywords

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

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