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 - http://www.scopus.com/inward/record.url?scp=85076029112&partnerID=8YFLogxK
U2 - 10.1016/j.jcjo.2019.03.007
DO - 10.1016/j.jcjo.2019.03.007
M3 - Article
C2 - 31836123
VL - 54
SP - e308-e311
JO - Canadian Journal of Ophthalmology
JF - Canadian Journal of Ophthalmology
SN - 1715-3360
IS - 6
ER -