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Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy
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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470204/ https://www.ncbi.nlm.nih.gov/pubmed/26239453 http://dx.doi.org/10.3390/jcm4050874 |
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author | Gourier, Hanae C. Y. Chong, N. Victor |
author_facet | Gourier, Hanae C. Y. Chong, N. Victor |
author_sort | Gourier, Hanae C. Y. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4470204 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-44702042015-07-28 Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy Gourier, Hanae C. Y. Chong, N. Victor J Clin Med Review 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. MDPI 2015-05-04 /pmc/articles/PMC4470204/ /pubmed/26239453 http://dx.doi.org/10.3390/jcm4050874 Text en © 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Gourier, Hanae C. Y. Chong, N. Victor Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy |
title | Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy |
title_full | Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy |
title_fullStr | Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy |
title_full_unstemmed | Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy |
title_short | Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby’s Fundus Dystrophy |
title_sort | can novel treatment of age-related macular degeneration be developed by better understanding of sorsby’s fundus dystrophy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470204/ https://www.ncbi.nlm.nih.gov/pubmed/26239453 http://dx.doi.org/10.3390/jcm4050874 |
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