Pasquay Caroline, Wang Lu Fei, Lorenz Birgit, Preising Markus N
a Department of Ophthalmology , Justus-Liebig-University Giessen , Germany and.
Ophthalmic Genet. 2015;36(3):193-212. doi: 10.3109/13816810.2013.863945.
This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in the control and properties of the light peak of the EOG. Initially human bestrophin 1 gene (BEST1) mutations were identified to underlie Best vitelliform macular dystrophy (VMD), a dominantly inherited, juvenile-onset form of macular degeneration. In the recent past the phenotypical spectrum of retinal disorders associated with BEST1 mutations has been extended and the term bestrophinopathies was coined. The physiological role of bestrophin 1 is still not completely understood but has been linked to the generation of a transepithelial chloride current by controlling voltage-dependent calcium channels (VDCC). Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors.
本文旨在综述视黄醛结合蛋白1（bestrophin 1）在功能和临床方面的现有知识状态，视黄醛结合蛋白1是参与视网膜电图光峰控制和特性的蛋白质家族中的重要成员。最初，人类视黄醛结合蛋白1基因（BEST1）突变被确定为贝斯特卵黄样黄斑营养不良（VMD）的病因，VMD是一种显性遗传的青少年期黄斑变性形式。最近，与BEST1突变相关的视网膜疾病的表型谱得到了扩展，并创造了“视黄醛结合蛋白病”这一术语。视黄醛结合蛋白1的生理作用仍未完全了解，但已与通过控制电压依赖性钙通道（VDCC）产生跨上皮氯电流有关。视黄醛结合蛋白1功能障碍可能导致视网膜色素上皮（RPE）的离子和液体运输异常，从而干扰甚至破坏RPE与光感受器之间的直接相互作用。
