Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review

Tomoyasu Kayazawa; Kazuki Kuniyoshi; Yoshikazu Hatsukawa; Kaoru Fujinami; Kazutoshi Yoshitake; Kazushige Tsunoda; Hiroshi Shimojo; Takeshi Iwata; Shunji Kusaka

doi:10.1080/13816810.2021.2023195

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review

Ophthalmic Genet. 2022 Jun;43(3):400-408. doi: 10.1080/13816810.2021.2023195. Epub 2022 Jan 13.

Authors

Affiliations

¹ Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka, Japan.
² Department of Ophthalmology, Osaka Women's and Children's Hospital, Osaka, Japan.
³ Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁴ Genetics, UCL Institute of Ophthalmology Associated with Moorfields Eye Hospital, London, UK.
⁵ Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
⁶ Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁷ Graduate School of Agricultural and Life Science, Faculty of Agriculture, The University of Tokyo, Tokyo, Japan.
⁸ Department of Ophthalmology, Graduate School of Medicine, Osaka University, Osaka, Japan.

PMID: 35026968
DOI: 10.1080/13816810.2021.2023195

Abstract

Leber congenital amaurosis (LCA), although rare, is one of the most severe forms of early-onset inherited retinal dystrophy (IRD). Here, we review the molecular genetics and phenotypic characteristics of patients with NMNAT1-associated IRD. The longitudinal clinical and molecular findings of a Japanese girl diagnosed with LCA associated with pathogenic variants in NMNAT1 c.648delG, (p.Trp216Ter*) and c.709C>T (p.Arg237Cys) have been described to highlight the salient clinical features of NMNAT1-associated IRD.

Keywords: LCA9; Leber congenital amaurosis; NMNAT1; inherited retinal dystrophy; macular degeneration; nonsense variant.

Publication types

Case Reports
Review
Research Support, Non-U.S. Gov't

MeSH terms

Female
Humans
Japan
Leber Congenital Amaurosis* / diagnosis
Leber Congenital Amaurosis* / genetics
Mutation
Nicotinamide-Nucleotide Adenylyltransferase* / genetics
Nicotinamide-Nucleotide Adenylyltransferase* / metabolism
Pedigree
Retinal Dystrophies* / diagnosis

Substances

NMNAT1 protein, human
Nicotinamide-Nucleotide Adenylyltransferase