A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy

Abstract

Sorsby fundus dystrophy (SFD) is a rare autosomal dominant macular degeneration characterized by abnormal thickening of Bruch's membrane (BM) leading to macular atrophy and choroidal neovascularization (CNV). SFD is caused by mutations in the gene encoding the tissue inhibitor of metalloproteinase-3 (TIMP3), a multifunctional protein component of BM. Disturbed homeostasis in extracellular matrix (ECM) remodeling is likely involved in SFD pathology. Here, we summarize the current findings on the mechanism(s) by which mutant TIMP3 causes the phenotypical expression of SFD. In addition, the association between SFD and complex age-related macular degeneration (AMD) is discussed. © 2012 Springer Science+Business Media, LLC.