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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. ; Goldberg, M. F.


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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