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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

posted on 17.01.2022, 07:00 by Tomoyasu Kayazawa, Kazuki Kuniyoshi, Yoshikazu Hatsukawa, Kaoru Fujinami, Kazutoshi Yoshitake, Kazushige Tsunoda, Hiroshi Shimojo, Takeshi Iwata, Shunji Kusaka

   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.


This research was partially supported by the Japan Agency for Medical Research and Development (AMED) under Grant 19ek0109282h0003 to T.I.; the Ministry of Health, Labor and Welfare (Practical Research Project for Rare/Intractable Diseases) under Grant H23-Jitsuyo(Nanbyo)-Ippan-006 to T.I.; Grant-in-Aid for Scientific Research, Japan Society for the Promotion of Science under Grant H26-26462674 to K.T. and 16H06269 and 16KK0193 to K.F.; and the National Hospital Organization Network Research Fund under Grant H30-NHO-Sensory Organs-03 to K.F. and K.T.