Saddek Mohand-Said

TL;DR: This relatively inexpensive first-pass genetic testing device for patients with a diagnosis of CSNB will improve molecular diagnostics and genetic counseling of patients and their families and gives the opportunity to analyze whether, for example, more progressive disorders such as cone or cone-rod dystrophies underlie the same gene defects.

TL;DR: Adeno-associated viral mediated expression of G protein coupled inwardly rectifying K (GIRK) channel provided improvements in visual function in two RCD mouse models with mutations in two distinct genes.

TL;DR: Results indicate that NMNAT1 mutations cause LCA, the first to link an NMNAT isoform to disease in humans and indicate that this mutation segregated with disease in the kindred, including in three other children with LCA.

TL;DR: In this paper, the authors evaluated the post-approval long-term outcomes of the Argus II Retinal Prosthesis, with a specific focus on its functional visual benefit in patients' daily activities.