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Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy

Oxford Eye Hospital, Oxford University Hospitals, Oxford, OX3 9DU, UK
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Academic Editors: Lindsay Farrer and Margaret DeAngelis
J. Clin. Med. 2015, 4(5), 874-883; https://doi.org/10.3390/jcm4050874
Received: 25 September 2014 / Accepted: 17 April 2015 / Published: 4 May 2015
(This article belongs to the Special Issue Age-Related Macular Disease)
Sorsby’s Fundus Dystrophy (SFD) is a rare autosomal dominant maculopathy that shares many clinical features with Age-Related Macular Degeneration (AMD). It is caused by a mutation in a single gene, TIMP-3, which accumulates in Bruch’s membrane (BM). BM thickening and TIMP-3 accumulation can also be found in AMD. From our understanding of the pathophysiology of SFD we hypothesize that BM thickening could be responsible for making the elastic layer vulnerable to invasion by choriocapillaris, thereby leading to choroidal neovascularization in some cases of AMD, whilst in others it could deprive the retinal pigment epithelium of its blood supply, thereby causing geographic atrophy. View Full-Text
Keywords: Sorsby’s fundus dystrophy; age-related macular degeneration; Bruch’s membrane; TIMP-3; choroidal neovascularisation; geographic atrophy Sorsby’s fundus dystrophy; age-related macular degeneration; Bruch’s membrane; TIMP-3; choroidal neovascularisation; geographic atrophy
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Gourier, H.C.Y.; Chong, N.V. Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy. J. Clin. Med. 2015, 4, 874-883.

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