The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …

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 …

Lipid nanoparticle (LNP)–based mRNA delivery holds promise for the treatment of inherited
retinal degenerations. Currently, LNP-mediated mRNA delivery is restricted to the retinal …

Purpose In a large cohort of molecularly characterized inherited retinal disease (IRD)
families, we investigated proportions with disease attributable to causative variants in each …

Inherited retinal diseases (IRDs) cause progressive loss of light-sensitive photoreceptors in
the eye and can lead to blindness. Gene-based therapies for IRDs have shown remarkable …

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

Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …

Nanomaterials are currently being developed for the specific cell/tissue/organ delivery of
genetic material. Nanomaterials are considered as non-viral vectors for gene therapy use …

The discovery of the CRISPR/Cas system and its development into a powerful genome
engineering tool have revolutionized the field of molecular biology and generated …

The discovery of novel intronic variants in the ABCA4 locus has contributed significantly to
solving the missing heritability in Stargardt disease (STGD1). The increasing number of …