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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 04/2015, Volume 56, Issue 4, pp. 2664 - 2676
PURPOSE. To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus dystrophy (SFD), including a novel early sign for the... 
phenotype | INDOCYANINE GREEN | LOCALIZATION | therapy | MEMBRANE | CHOROIDAL NEOVASCULARIZATION | genotype | FAMILY | Sorsby fundus dystrophy | GENE | OPHTHALMOLOGY | TISSUE INHIBITOR | METALLOPROTEINASES-3 TIMP3 | GEOGRAPHIC ATROPHY | PROGRESSION
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 12/2013, Volume 7, Issue 1, pp. 71 - 74
The purpose of this study was to report a patient with an atypical presentation of Sorsby fundus dystrophy. Retrospective chart review. A 38-year-old man with... 
Sorsby fundus dystrophy | TIMP-3
Journal Article
Matrix Biology, ISSN 0945-053X, 06/2008, Volume 27, Issue 5, pp. 381 - 392
Sorsby fundus dystrophy (SFD) is an autosomal dominant macular degeneration of late onset. A key feature of the disease is the thickening of Bruch's membrane,... 
Angiogenesis | Sorsby fundus dystrophy | Timp3 gene-targeted mice | Protease activity | Tissue inhibitor of metalloproteases-3 (TIMP3) | tissue inhibitor of metalloproteases-3 (TIMP3) | protease activity | UNUSUAL CLINICAL-FEATURES | angiogenesis | BIOCHEMISTRY & MOLECULAR BIOLOGY | MACULAR DEGENERATION | CELL BIOLOGY | COMPLEMENT FACTOR-H | PIGMENT EPITHELIAL-CELLS | TISSUE INHIBITOR | EXTRACELLULAR-MATRIX | METALLOPROTEINASES-3 TIMP3 | EXPRESSION | AGE | ADAM17 Protein | Chondrocytes - cytology | Vascular Endothelial Growth Factor A - metabolism | Tissue Inhibitor of Metalloproteinase-2 - genetics | Tissue Inhibitor of Metalloproteinases - genetics | Tissue Inhibitor of Metalloproteinase-1 - metabolism | Tissue Inhibitor of Metalloproteinase-2 - metabolism | Procollagen N-Endopeptidase - metabolism | Tissue Inhibitor of Metalloproteinase-3 - metabolism | Chondrocytes - metabolism | Fibroblasts - metabolism | Tissue Inhibitor of Metalloproteinase-3 - genetics | Recombinant Proteins - metabolism | ADAMTS5 Protein | Gene Expression | Macular Degeneration - physiopathology | Endothelial Cells - metabolism | Neovascularization, Physiologic - genetics | Liver - metabolism | Matrix Metalloproteinase 13 - genetics | Procollagen N-Endopeptidase - genetics | Cells, Cultured | Vascular Endothelial Growth Factor Receptor-2 - metabolism | Aggrecans - metabolism | Tissue Inhibitor of Metalloproteinase-3 - physiology | Aggrecans - genetics | Tissue Inhibitor of Metalloproteinases - metabolism | ADAMTS4 Protein | Matrix Metalloproteinase 13 - metabolism | Mice, Knockout | Macular Degeneration - metabolism | Neovascularization, Physiologic - physiology | Tissue Inhibitor of Metalloproteinase-1 - genetics | ADAM Proteins - metabolism | Animals | Macular Degeneration - genetics | Endothelial Cells - cytology | Fibroblasts - cytology | Mice | Mutation | ADAM Proteins - genetics | Amino Acid Substitution | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 1995, Volume 11, Issue 1, pp. 27 - 32
Journal Article
Journal of Clinical Medicine, ISSN 2077-0383, 05/2015, Volume 4, Issue 5, pp. 874 - 883
Sorsby’s Fundus Dystrophy (SFD) is a rare autosomal dominant maculopathy that shares many clinical features with Age-Related Macular Degeneration (AMD). It is... 
TIMP-3 | Sorsby’s fundus dystrophy | Bruch’s membrane | choroidal neovascularisation | geographic atrophy | age-related macular degeneration
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 03/2012, Volume 6, Issue 2, pp. 193 - 196
To report a case of extrafoveal choroidal neovascularization secondary to Sorsby fundus dystrophy that maintained 20/20 visual acuity over 14 months with... 
Choroidal neovascularization | Sorsby fundus dystrophy | Bevacizumab
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 2011, Volume 5, Issue 2, pp. 132 - 135
The purpose of this study was to investigate the response of choroidal neovascularization (CNV) in Sorsby fundus dystrophy to intravitreal bevacizumab. Three... 
Sorsby choroidal dystrophy | CNV | Bevacizumab
Journal Article
Journal Article
BRAIN, ISSN 0006-8950, 06/2013, Volume 136, pp. 1830 - 1845
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, or CADASIL, one of the most common inherited small vessel diseases... 
SUBCORTICAL INFARCTS | LIGAND-BINDING | cerebrovasculature | extracellular matrix proteins | NEUROSCIENCES | CLINICAL NEUROLOGY | SORSBYS FUNDUS DYSTROPHY | CADASIL | MUTANT NOTCH3 | SIGNALING PATHWAY | protein aggregation | SMALL-VESSEL DISEASE | Notch3 | TISSUE INHIBITOR | AUTOSOMAL-DOMINANT ARTERIOPATHY | SMOOTH-MUSCLE-CELLS | METALLOPROTEINASES-3 TIMP3
Journal Article
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