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 …

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 …

Recently, gene therapy clinical trials have been successfully applied to
hemoglobinopathies, such as sickle cell disease (SCD) and β-thalassemia. Among the great …

All adeno-associated virus (AAV) vectors currently used in clinical trials or approved gene
therapy biologics are based on human or non-human primate AAVs. A major challenge for …

Purpose: This systematic review evaluates the safety and efficacy of ocular gene therapy
using adeno-associated virus (AAV). Methods: MEDLINE, Embase, Cochrane Central …

More and more patients suffer from multifactorial neurodegenerative diseases, such as age-
related macular degeneration (AMD). However, their pathological mechanisms are still …

The ability to accurately determine the dose of an adeno-associated viral (AAV) therapeutic
vector is critical to the gene therapy process. Quantitative PCR (qPCR) is one of the common …

Voretigene neparvovec (VN) is the first available gene therapy for patients with biallelic
RPE65-mediated inherited retinal dystrophy who have sufficient viable retinal cells …

Purpose: Ca v 1.4 is a voltage-gated calcium channel clustered at the presynaptic active
zones of photoreceptors. Ca v 1.4 functions in communication by mediating the Ca 2+ influx …

Purpose: We developed and phenotyped a pigmented knockout rat model for lecithin retinol
acyltransferase (LRAT) using CRISPR/Cas9. The introduced mutation (c. 12delA) is based …