Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in : a case report and mini review.

Address: Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka, Japan.; Department of Ophthalmology, Osaka Women's and Children's Hospital, Osaka, Japan.; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Genetics, UCL Institute of Ophthalmology Associated with Moorfields Eye Hospital, London, UK.; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Graduate School of Agricultural and Life Science, Faculty of Agriculture, The University of Tokyo, Tokyo, Japan.; Department of Ophthalmology, Graduate School of Medicine, Osaka University, Osaka, Japan.