Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous
degenerative disorders. To date, mutations have been associated with IRDs in over 270 …

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 …

Compared to intravitreal injection, subretinal injection has more direct effects on the
targeting cells in the subretinal space, which provides a new therapeutic method for …

Background: Ocular drug delivery is an extremely challenging area due to its restrictive
barrier functionalities. Objective: Drug transport via corneal/non-corneal routes involves …

The eye is a highly specialized organ that is subject to a huge range of pathology. Both local
and systemic disease may affect different anatomical regions of the eye. The least invasive …

Vectors derived from adeno-associated virus (AAV) are promising for human gene therapy,
including treatment for retinal blindness. One major limitation of AAVs as vectors is that AAV …

Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …

Inherited retinal dystrophies and optic neuropathies cause chronic disabling loss of visual
function. The development of recombinant adeno-associated viral vectors (rAAV) gene …

Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone
outer segments. The relevance of this protein to photoreceptor outer segment morphology …

Mitochondrial diseases due to mutations in mitochondrial DNA can no longer be ignored in
most medical areas. With prevalence certainly higher than one in 6000, they probably …