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A Review and Update on the Molecular Basis of Pathogenesis of Sorsby Fundus Dystrophy

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Book cover Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 723))

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.

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Author information

Authors and Affiliations

  1. Institute of Human Genetics, University Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany

    Heidi Stöhr

  2. Department of Ophthalmic Research, Cole Eye Institute, 9500 Euclid Avenue, Cleveland, OH, 44195, USA

    Bela Anand-Apte

Authors
  1. Heidi Stöhr
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  2. Bela Anand-Apte
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Corresponding author

Correspondence to Heidi Stöhr .

Editor information

Editors and Affiliations

  1. University of California, San Francisco, n/a, San Francisco, 94143, USA

    Matthew M. LaVail

  2. University of Oklahoma Health Sciences C, Oklahoma City, 73104, USA

    John D. Ash

  3. Health Science Center, Dean A. McGee Eye Inst., University of Oklahoma, Stanton L. Young Blvd. 608, OKLAHOMA CITY, 73104, Oklahoma, USA

    Robert E. Anderson

  4. Division of Ophthalmology, Cole Eye Institute at the Cleveland Clin, Euclid Ave. 9500, Cleveland, 44195, Ohio, USA

    Joe G. Hollyfield

  5. Experimental Ophthalmology, University of Zurich, ZURICH, 8091, Switzerland

    Christian Grimm

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Stöhr, H., Anand-Apte, B. (2012). A Review and Update on the Molecular Basis of Pathogenesis of Sorsby Fundus Dystrophy. In: LaVail, M., Ash, J., Anderson, R., Hollyfield, J., Grimm, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 723. Springer, Boston, MA. https://doi.org/10.1007/978-1-4614-0631-0_34

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