Genotype-Phenotype Correlation forTGFBICorneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy | Zendy

Cerys J. Evans | Zendy; Alice E. Davidson | Zendy; Nicole Carnt | Zendy; Karla E. Rojas López | Zendy; Neyme Veli | Zendy; Caroline Thaung | Zendy; Stephen J. Tuft | Zendy; Alison J. Hardcastle | Zendy

Open Access

Genotype-Phenotype Correlation forTGFBICorneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

Author(s) -

Cerys J. Evans,

Alice E. Davidson,

Nicole Carnt,

Karla E. Rojas López,

Neyme Veli,

Caroline Thaung,

Stephen J. Tuft,

Alison J. Hardcastle

Publication year - 2016

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-19818

Subject(s) - tgfbi , proband , corneal dystrophy , medicine , phenotype , genotype , genetics , mutation , dystrophy , pathology , biology , cornea , gene , ophthalmology

The majority of anterior corneal dystrophies are caused by dominant mutations in TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal TGFBI dystrophies. Most cases of epithelial basement membrane dystrophy (EBMD) are thought to result from a degenerative (nongenetic) process; however, a minority of cases are associated with specific TGFBI mutations. We evaluated the spectrum of TGFBI mutations and associated phenotypes in a United Kingdom cohort with typical epithelial-stromal TGFBI dystrophies and an EBMD cohort.

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