A Review and Update on the Molecular Basis of Pathogenesis of Sorsby Fundus Dystrophy
A Review and Update on the Molecular Basis of Pathogenesis of Sorsby Fundus Dystrophy
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DOI：
10.1007/978-1-4614-0631-0_34
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发表时间：
2012-01-01
期刊：
影响因子：
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通讯作者：
Anand-Apte, Bela
中科院分区：
文献类型：
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作者：
Stoehr, Heidi;Anand-Apte, Bela
Sorsby眼底营养不良（SFD）是一种罕见的常染色体显性黄斑变性，其特征是布鲁赫膜（BM）异常增厚，导致黄斑萎缩和脉络膜新生血管（CNV）。SFD是由编码金属蛋白酶组织抑制剂-3（TIMP 3）的基因突变引起的，TIMP 3是BM的一种多功能蛋白质组分。细胞外基质（ECM）重塑中的稳态紊乱可能参与SFD病理。在这里，我们总结了目前的研究结果的机制（S）突变TIMP 3导致SFD的表型表达。此外，SFD和复杂的年龄相关性黄斑变性（AMD）之间的关联进行了讨论。
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.