Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene

Conclusions
The p.(Val113Ile) mutation results in an alteration of the atypical LCD phenotype associated with the p.(Leu558Pro) mutation. This represents only the second report of the alteration of the phenotype of a TGFBI dystrophy by a second, non-homozygous pathogenic mutation, and thus provides insight into the phenotype-genotype correlation of the TGFBI dystrophies.

Source: British Journal of Ophthalmology - March 21, 2017 Category: Opthalmology Authors: Ann, L. B.-T., Abbouda, A., Frausto, R. F., Huseynli, S., Gupta, K., Alio, J. L., Aldave, A. J. Tags: Vision, Neurology, Epidemiology Original articles - Clinical science Source Type: research