Mutations in the gene BEST1 are causally associated with as many as five clinically distinct
retinal degenerative diseases, which are collectively referred to as the “bestrophinopathies” …

Bestrophinopathies are a group of clinically distinct inherited retinal dystrophies that typically
affect the macular region, an area synonymous with central high acuity vision. This spectrum …

BACKGROUND: Aortic dissection (AD) is a fatal cardiovascular disorder without effective
medications due to unclear pathogenic mechanisms. Bestrophin3 (Best3), the predominant …

Abstract Mutations in bestrophin-1 (BEST1) are associated with distinct retinopathies,
notably three forms with autosomal dominant inheritance and one condition with an …

Autosomal recessive bestrophinopathy (ARB) is caused by mutations in the gene BEST1
which encodes bestrophin 1 (Best1), an anion channel expressed in retinal pigment …

Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy
(ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the …

Bestrophin 1 (Best1) is a chloride channel that localises to the plasma membrane of retinal
pigment epithelium (RPE) cells. Mutations in the BEST1 gene are associated with a group of …

Ion channels are membrane-spanning integral proteins expressed in multiple organs,
including the eye. In the eye, ion channels are involved in various physiological processes …

Purpose: Bestrophinopathies are a group of untreatable inherited retinal dystrophies caused
by mutations in the retinal pigment epithelium (RPE) Cl− channel bestrophin 1. We tested …

Best Vitelliform Macular dystrophy (BVMD) is the most prevalent of the distinctive retinal
dystrophies caused by mutations in the BEST1 gene. This gene, which encodes for a …