Article
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism.
Scientific reports - 22 Nov 2019
Qi Jian Hua, Bell Brent, Singh Rupesh, Batoki Julia, Wolk Alyson, Cutler Alecia, Prayson Nicholas, Ali Mariya, Stoehr Heidi, Anand-Apte Bela
Abstract excerpt
Choroidal neovascularization (CNV) leads to loss of vision in patients with Sorsby Fundus Dystrophy (SFD), an inherited, macular degenerative disorder, caused by mutations in the Tissue Inhibitor of Metalloproteinase-3 (TIMP3) gene. SFD closely resembles age-related macular degeneration (AMD), which is the leading cause of blindness in the elderly population of the Western hemisphere. Variants in TIMP3 gene have...
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