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.
- TGFBI, Late-onset Lattice Corneal Dystrophy, Genetic Testing, Family Study
Chao-Shern, C., DeDionisio, L., Chan, C., Nesbit, M. A., & McMullen, C. B. T. (2019). Late-Onset Lattice Corneal Dystrophy Associated TGFBI p.H626R Mutation in Members of a Canadian Family. Canadian Journal of Ophthalmology, 54(6), e308-e311. https://doi.org/10.1016/j.jcjo.2019.03.007