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 …

Chromosome 20 abnormalities are some of the most frequent genomic changes acquired by
human pluripotent stem cell (hPSC) cultures worldwide. Yet their effects on differentiation …

Glaucoma is one of the leading causes of blindness, and there is an ongoing need for new
therapies. Recent studies indicate that cell transplantation using Müller glia may be …

Regenerative medicine has received a lot of attention as a novel strategy for injuries and
diseases that are difficult to cure using current techniques. Cell production, which is vital for …

Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known
to display both clinical and genetic heterogeneity. A further complexity is that for several IRD …

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

For decades, RNA has served in a supporting role between the genetic carrier (DNA) and
the functional molecules (proteins). It is finally time for RNA to take center stage in all …

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 …

Age-related macular degeneration remains the most common cause of blindness in the
western world, severely comprising patients' and carers' quality of life and presenting a great …