Gene therapy and clinical management of LCA5 inherited retinal degeneration

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
Uyhazi et al., Investigative Ophthalmology and Visual Science 2020 » View Presentation
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness
Song et al., Molecular Therapy 2018 » View Presentation

Gene therapy and clinical management of RDH12 inherited retinal degeneration

RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function
Aleman et al., Investigative Ophthalmology and Visual Science 2018 » View Presentation

Gene therapy and clinical management of NMNAT1 inherited retinal degeneration

Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina
Brown et al., Human Molecular Genetics 2021 » View Presentation
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration
Greenwald et al., Human Molecular Genetics 2021 » View Presentation
Gene Therapy Preserves Retinal Structure and Function in a Mouse Model of NMNAT1-Associated Retinal Degeneration
Greenwald et al., Molecular Therapy: Methods and Clinical Development, 2020 » View Presentation
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease
Greenwald et al., American Journal of Pathology 2016 » View Presentation
NMNAT1 mutations cause Leber congenital amaurosis.
Falk et al., Nature Genetics 2012 » View Presentation