Autosomal dominant vitreoretinochoroidopathy
Definition:
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects. ADVIRC is caused by mutations in the bestrophin-1 (BEST1) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment epithelium (RPE) that acts as a chloride channel.
References:
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[1]. David A Carter, et al. Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). Sci Rep. 2016 Sep 22;6:33792. [Content Brief]
[2]. R Burgess, et al. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet. 2009 Sep;46(9):620-5. [Content Brief]
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