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SFD is caused by specific mutations in the Tissue Inhibitor of Metalloproteinase\u20103, (TIMP3) gene. The predominant histo\u2010pathological feature in the eyes of patients with SFD are confluent 20\u201330\u00a0m thick, amorphous deposits found between the basement membrane of the retinal pigment epithelium (RPE) and the inner collagenous layer of Bruch's membrane. SFD is a rare disease but it has generated significant interest because it closely resembles the exudative or \u201cwet\u201d form of the more common age\u2010related macular degeneration (AMD). In addition, in both SFD and AMD donor eyes, sub\u2010retinal deposits have been shown to accumulate TIMP3 protein. Understanding the molecular functions of wild\u2010type and mutant TIMP3 will provide significant insights into the patho\u2010physiology of SFD and perhaps AMD. This review summarizes the current knowledge on TIMP3 and how mutations in TIMP3 cause SFD to provide insights into how we can study this disease going forward. Findings from these studies could have potential therapeutic implications for both SFD and AMD.<\/jats:p>","DOI":"10.1002\/jnr.24317","type":"journal-article","created":{"date-parts":[[2018,8,22]],"date-time":"2018-08-22T15:50:25Z","timestamp":1534953025000},"page":"88-97","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Sorsby fundus dystrophy:<i>Insights from the past and looking to the future<\/i>"],"prefix":"10.1002","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4845-9094","authenticated-orcid":false,"given":"Bela","family":"Anand\u2010Apte","sequence":"first","affiliation":[{"name":"Department of Ophthalmic Research Cole Eye Institute, Cleveland Clinic Foundation Cleveland Ohio"},{"name":"Department of Ophthalmology and Department of Molecular Medicine Lerner Research Institute, Cleveland Clinic Lerner College of Medicine Cleveland Ohio"},{"name":"Department of Molecular Medicine Lerner Research Institute, Cleveland Clinic Lerner College of Medicine Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer R.","family":"Chao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruchira","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (Flaum Eye Institute) and Biomedical Genetics, 3Center for Visual Science UR Stem Cell and Regenerative Medicine Institute University of Rochester Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"St\u00f6hr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Universit\u00e4t Regensburg Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.24.14313"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(03)00036-X"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6690217"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI1584"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2012.221"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.123.4.542"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.189"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.5966\/sctm.2012-0163"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.34.7.393"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(89)32664-9"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1988.23"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.17536"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2017.11.004"},{"key":"e_1_2_10_15_1","first-page":"1","article-title":"Choriocapillaris' alterations in the presence of reticular pseudodrusen compared to drusen: Study based on OCTA findings","author":"Chatziralli I.","year":"2017","journal-title":"International Ophthalmology"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0912702107"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2017.08.014"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.222551899"},{"key":"e_1_2_10_19_1","first-page":"1921","article-title":"Localization of TIMP\u20103 mRNA expression to the retinal pigment epithelium","volume":"37","author":"Della N. 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