Hayasaka S, Hara S, Mizuno K, Narisawa K, Tada K
Am J Ophthalmol. 1986 Apr 15;101(4):475-9. doi: 10.1016/0002-9394(86)90650-1.
Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth. Her brother (Patient 2) was nearly blind shortly after birth. He had a poor pupillary light reflex and a nearly extinguished electroretinographic response. He also had hyperthreoninemia, hyperthreoninuria, hepatomegaly, and mental and physical retardation. We suspect a close relationship between hyperthreoninemia and Leber's congenital amaurosis in these siblings.
两名兄弟姐妹患有莱伯先天性黑蒙。女孩（患者1）出生后不久即失明，瞳孔对光反射消失，双眼底可见多个圆形白色斑点。她的血清苏氨酸水平升高（2.0至5.3mg/dl；正常范围为0.78至1.82mg/dl）。她出生后四个月死于大量心包积液。她的哥哥（患者2）出生后不久几乎失明。他的瞳孔对光反射差，视网膜电图反应几乎消失。他还患有高苏氨酸血症、高苏氨酸尿症、肝肿大以及智力和身体发育迟缓。我们怀疑这些兄弟姐妹中高苏氨酸血症与莱伯先天性黑蒙之间存在密切关系。
