Retinal pigment epithelial cells (RPE) constitute a simple layer of cuboidal cells that are
strategically situated behind the photoreceptor (PR) cells. The inconspicuousness of this …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

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” …

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 …

This article reviews the current state of knowledge about the bestrophins, a newly identified
family of proteins that can function both as Cl− channels and as regulators of voltage-gated …

We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is
consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a …

Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …

Glaucoma can be inherited as a mendelian autosomal-dominant or autosomal-recessive
trait, or as a complex multifactorial trait. Genetic approaches have helped define the …

Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal
pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause the retinal …

Glaucoma is a family of diseases whose pathology is defined by the progressive loss of
retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with …