Late-onset lattice corneal dystrophy associated TGFBI p.H626R mutation in members of a Canadian family

Article Abstract

Within the over 70 reported transforming growth factor-beta–induced (TGFBI) corneal dystrophy mutations,1more than 40 are associated with lattice corneal dystrophy (LCD), subtypes I, III, IIIA, and IIIB according to the Human Gene Mutation Database (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 2 cases of post-laser-assisted in situ keratomileusis (LASIK) and postcorneal injury exacerbated late-onset LCD, attributed to a p.H626R mutation in the TGFBI protein.

 

For more information, read the article here: Article PDF