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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


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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