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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&gt;T (p.Arg237Cys) have been described to highlight the salient clinical features of  NMNAT1 -associated IRD.

ophthalmic genetics

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