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Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1

Chen, C .J., Kaufman, S., Packo, K., Stöhr, Heidi, Weber, Bernhard H. F. and Goldberg, M. F. (2016) Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. Ophthalmic Genetics 37, pp. 102-108.

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Abstract

BACKGROUND: Mutations in BEST1 account for autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare inherited retinal dystrophy with presenile cataracts and incomplete anterior segment development. The long-term clinical findings and visual prognosis of these patients continues to evolve over time. MATERIALS AND METHODS: The retina was assessed by fundus photography, fluorescein angiography, ...

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Item type:Article
Date:2016
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.3109/13816810.2015.1039893DOI
26849243PubMed ID
Keywords:Autosomal dominant vitreoretinochoroidopathy (ADVIRC); BEST1
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:35130
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