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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 ; Weber, Bernhard H. F. ;



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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