کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4032125 1262951 2009 19 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی سیستم های حسی
پیش نمایش صفحه اول مقاله
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
چکیده انگلیسی

Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is located in the basolateral membrane of the retinal pigment epithelium. The bestrophin-1 protein forms a Ca2+ activated Cl− channel and is involved in the regulation of voltage-dependent Ca2+ channels. In addition, bestrophin-1 appears to play a role in ocular development. Over 120 different human BEST1 mutations have been described to date, associated with a broad range of ocular phenotypes. The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset foveomacular vitelliform dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome, and autosomal recessive bestrophinopathy. The genotype–phenotype correlations that are observed in association with BEST1 mutations are discussed. In addition, in vitro studies and animal models that clarify the pathophysiological mechanisms are reviewed.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Progress in Retinal and Eye Research - Volume 28, Issue 3, May 2009, Pages 187–205
نویسندگان
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