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

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 <i>NMNAT1-</i>associated IRD. The longitudinal clinical and molecular findings of a Japanese girl diagnosed with LCA associated with pathogenic variants in <i>NMNAT1</i> c.648delG, (p.Trp216Ter*) and c.709C&gt;T (p.Arg237Cys) have been described to highlight the salient clinical features of <i>NMNAT1</i>-associated IRD.