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Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1

Kellner, S., Stöhr, Heidi, Fiebig, B., Weinitz, S., Farmand, G., Kellner, U. and Weber, Bernhard H. F. (2016) Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. Ophthalmic Genetics 37, pp. 201-208.

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Abstract

PURPOSE: To report the variability of clinical findings, rapid concentric progression, and successful treatment of macular edema in autosomal dominant vitreoretinochoroidopathy (ADVIRC) associated with a heterozygous c.256G > A missense mutation in the bestrophin-1 (BEST1) gene. METHODS: Three affected members of a four-generation ADVIRC family were examined with fundus autofluorescence (FAF), ...

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Item type:Article
Date:2016
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.3109/13816810.2015.1033556DOI
26771239PubMed ID
Keywords:ADVIRC; BEST1; fundus autofluorescence; long-term follow-up; near-infrared autofluorescence
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:35131
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