Article
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
The ocular surface - 1 Oct 2014
Lakshminarayanan R, Chaurasia Shyam S, Anandalakshmi Venkatraman, Chai Shu-Ming, Murugan Elavazhagan, Vithana Eranga N, Beuerman Roger W, Mehta Jodhbir S
Abstract excerpt
Corneal dystrophies are a group of inherited disorders localized to various layers of the cornea that affect corneal transparency and visual acuity. The deposition of insoluble protein materials in the form of extracellular deposits or intracellular cysts is pathognomic. Mutations in TGFBI are responsible for superficial and stromal corneal dystrophies. The gene product, transforming growth factor β induced...
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