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.
摘要：
Leber先天性黑蒙(LCA),虽然罕见，是早发性遗传性视网膜营养不良（IRD）的最严重形式之一。这里,我们综述了NMNAT1相关IRD患者的分子遗传学和表型特征.在NMNAT1c.648delG中，诊断为LCA的日本女孩的纵向临床和分子发现与致病变异有关，(p.Trp216Ter*）和c.709C>T（p。Arg237Cys）已被描述为突出NMNAT1相关IRD的显着临床特征。
