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Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies

Nachtigal, Anna-Lena ; Milenkovic, Andrea ; Brandl, Caroline ; Schulz, Heidi L. ; Duerr, Lisa M. J. ; Lang, Gabriele E. ; Reiff, Charlotte ; Herrmann, Philipp ; Kellner, Ulrich ; Weber, Bernhard H. F.


Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (BEST1) gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). To date, while no treatment exists a better understanding ...


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