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” …

A retinal pigmented epithelial (RPE) disorder, bestrophinopathy has recently been proven to
be amenable to gene and cell-based therapies in preclinical models. RPE disorders and …

The retinal pigment epithelium (RPE) is a polarized monolayer that secretes growth factors
and cytokines towards the retina apically and the choroid basolaterally. Numerous RPE …

Abstract A drastic TRPA1 mutant (R919*) identified in CRAMPT syndrome patients has not
been mechanistically characterized. Here, we show that the R919* mutant confers …

Retinal pigment epithelium (RPE) transplantation for the treatment of macular degeneration
has been studied for over 30 years. Human clinical trials have demonstrated that RPE …

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

Background: Vitelliform dystrophies are a group of macular degenerative diseases
characterized by round yellow lesions in the macula. While often idiopathic, vitelliform …

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

Recent phase 1 trials of embryonic stem cell and induced pluripotent stem cell (iPSCs)
derived RPE transplants for the treatment of macular degeneration have demonstrated the …

Retinitis pigmentosa is the most common form of inherited blindness and can be caused by
a multitude of different genetic mutations that lead to similar phenotypes. Specifically …