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1. 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

Author

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

Subjects
Ophthalmology, genetic structures, parasitic diseases, Pediatrics, Perinatology and Child Health, eye diseases, Genetics (clinical)
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.

Published
2022
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