What is Sorsby's fundus dystrophy?
نویسنده
چکیده
منابع مشابه
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation.
A transient COS-7 cell expression system was used to investigate the functional domain arrangement of tissue inhibitor of metalloproteinases-3 (TIMP-3), specifically to assess the contribution of the amino- and carboxyl-terminal domains of the molecule to its matrix metalloproteinase (MMP) inhibitory and extracellular matrix (ECM) binding properties. Wild type TIMP-3 was entirely localized to t...
متن کامل[Antiangiogenic therapy in Sorsby's fundus dystrophy without a mutation in the TIMP-3 gene].
CASE REPORT The case is presented of a 32-year-old man referring to metamorphopsia and blurred vision in both eyes for 3 days. Best corrected visual acuity of 20/32 in the right eye and 20/25 in the left eye. Fundus examination revealed the presence of drusen-like deposits, suggestive of Sorsby's fundus dystrophy (SFD) and choroidal neovascularization (CNV) bilaterally. The patient received int...
متن کاملProbable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family.
A genealogical link was established six generations back between a family living in England and Australia, and one of the families reported originally by Sorsby et al (1949) as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset--in the fifth decade of life--and the progress of the condition, which usually ends in blindness, has been observed in a numb...
متن کاملClinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism.
AIMS To describe the phenotype in three family members affected by a novel mutation in the gene coding for the enzyme tissue inhibitor of metalloproteinase-3 (TIMP-3). METHODS Three members of the same family were seen with a history of nyctalopia and visual loss due to maculopathy. Clinical features were consistent with Sorsby's fundus dystrophy. Exon 5 of the gene coding for TIMP-3 was ampl...
متن کاملSorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells.
Sorsby's fundus dystrophy (SFD) is an autosomal dominant degenerative disease of the retina, caused by mutations in exon 5 of the gene for tissue inhibitor of metalloproteinases-3 (TIMP-3). The mechanism by which these mutations give rise to the disease phenotype is unknown. In an attempt to identify common properties of these molecules that might underlie the disease phenotype, a range of SFD ...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 84 7 شماره
صفحات -
تاریخ انتشار 2000