Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2050766
Abstract: ABSTRACT Purpose To provide the initial confirmation of the c.1772C>T (p.Ser591Phe) mutation in the transforming growth factor- -induced (TGFBI) gene as being associated with variant lattice corneal dystrophy (LCD). Methods Ophthalmologic examination of the proband… read more here.
Keywords: ser591phe mutation; variant lattice; lattice corneal; mutation ... See more keywords
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2068616
Abstract: ABSTRACT Background To delineate the mutations of the TGFBI gene in Eastern China by whole-exome sequencing (WES) in eight Chinese families with lattice corneal dystrophy (LCD). Materials and methods This retrospective study included eight families… read more here.
Keywords: eastern china; lattice corneal; tgfbi gene; mutation ... See more keywords
Isolated corneal perineural amyloidosis: a unique presentation of lattice corneal dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-250222
Abstract: © BMJ Publishing Group Limited 2022. No commercial reuse. See rights and permissions. Published by BMJ. CASE DESCRIPTION A man in his 30s presented with painless progressive diminution of vision in his right eye for… read more here.
Keywords: corneal perineural; corneal nerves; amyloidosis; lattice corneal ... See more keywords