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Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Gliem, M., Müller, P. L., Mangold, E., Holz, Frank G., Bolz, H. J., Stöhr, Heidi and Weber, Bernhard H. F. (2015) Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes. Investigative Ophthalmology & Visual Science (IOVS) 56, pp. 2664-2276.

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Abstract

PURPOSE: To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus dystrophy (SFD), including a novel early sign for the disease and to report the effect of anti-VEGF therapy. METHODS: Twenty-one probands of three unrelated families with SFD were investigated using wide-field imaging, confocal laser scanning ophthalmoscopy with autofluorescence imaging, optical ...

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Item type:Article
Date:2015
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1167/iovs.14-15733DOI
25766588PubMed ID
Keywords:Sorsby fundus dystrophy, phenotype, genotype, therapy
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35151
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