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Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism

Qi, Jian Hua ; Bell, Brent ; Singh, Rupesh ; Batoki, Julia ; Wolk, Alyson ; Cutler, Alecia ; Prayson, Nicholas ; Ali, Mariya ; Stoehr, Heidi ; Anand-Apte, Bela



Abstract

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 ...

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