Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are
both genetically and phenotypically heterogeneous, and characterised clinically by severe …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually
debilitating diseases that can lead to blindness in which mutations in genes that are critical …

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular
degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal …

Blindness, although not life threatening, is a debilitating disorder for which few, if any
treatments exist. Ocular gene therapies have the potential to profoundly improve the quality …

Inherited retinopathies (IR) are common untreatable blinding conditions. Most of them are
inherited as monogenic disorders, due to mutations in genes expressed in retinal …

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 …

Several groups have reported the results of clinical trials of gene augmentation therapy for
Leber congenital amaurosis (LCA) because of mutations in the RPE65 gene. These studies …

Development of viral vectors capable of transducing photoreceptors by less invasive
methods than subretinal injection would provide a major advancement in retinal gene …

Retinal degenerative diseases are a leading cause of irreversible blindness. Retinal cell
death is the main cause of vision loss in genetic disorders such as retinitis pigmentosa …