Substantial restoration of night vision in adult mice with congenital stationary night blindness.

ABSTRACT: Complete congenital stationary night blindness (cCSNB) due to mutations in TRPM1, GRM6, GPR179, NYX, or leucine-rich repeat immunoglobulin-like transmembrane domain 3 (LRIT3) is an incurable inherited retinal disorder characterized by an ON-bipolar cell (ON-BC) defect. Since the disease is non-degenerative and stable, treatment could theoretically be administrated at any time in life, making it a promising target for gene therapy. Until now, adeno-associated virus (AAV)-mediated therapies lead to significant functional improvements only in newborn cCSNB mice. Here we aimed to restore protein localization and function in adult Lrit3 ^{-/ -} mice. LRIT3 localizes in the outer plexiform layer and is crucial for TRPM1 localization at

SUBMITTER: Varin J 

PROVIDER: S-EPMC8339357 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature