Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear 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” …

Regional phenotypic and functional differences in the retinal pigment epithelium (RPE)
monolayer have been suggested to account for regional susceptibility in ocular diseases …

The three interacting components of the outer blood-retinal barrier are the retinal pigment
epithelium (RPE), choriocapillaris, and Bruch's membrane, the extracellular matrix that lies …

RPE cells are the most actively phagocytic cells in the human body. In the eye, RPE cells
face rod and cone photoreceptor outer segments at all times but contribute to shedding and …

Next-generation and Sanger sequencing were combined to identify disease-causing
USH2A mutations in an adult patient with autosomal recessive RP. Induced pluripotent stem …

X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a
degenerative retinopathy with a retinal splitting phenotype. We generated human induced …

Age-related macular degeneration (AMD) and related macular dystrophies (MDs) are a
major cause of vision loss. However, the mechanisms underlying their progression remain ill …

Human pluripotent stem cells (hPSCs), including both embryonic and induced pluripotent
stem cells, possess the unique ability to readily differentiate into any cell type of the body …

In response to cell swelling, volume-regulated anion channels (VRACs) participate in a
process known as regulatory volume decrease (RVD). Only recently, first insight into the …