Article
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 genetics - 1 Jun 2022
Kayazawa Tomoyasu, Kuniyoshi Kazuki, Hatsukawa Yoshikazu, Fujinami Kaoru, Yoshitake Kazutoshi, Tsunoda Kazushige, Shimojo Hiroshi, Iwata Takeshi, Kusaka Shunji
Abstract excerpt
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...
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