Tanino T, Ishihara A, Naganuma K, Nakahata T
Doc Ophthalmol. 1986 Jun 16;63(1):83-9. doi: 10.1007/BF00153015.
Arteriohepatic dysplasia (Alagille syndrome) is a congenital cholestatic disease associated with ocular abnormalities. Three Japanese siblings, a 14-year-old girl, an 11-year-old boy, and a 9-year-old girl with this syndrome were studied. All three patients showed neonatal jaundice, hepatic dysfunction, characteristic facies, and psychomental retardation. The two sisters had cardiac murmurs. Ophthalmological examinations revealed that they had posterior embryotoxon, refractive error, retinochorodial degeneration, and electrophysiological abnormalities. The two sisters showed retinochoroidal degeneration and unilateral high myopia while the brother showed marked retinochoroidal degeneration with extensive pigment clumps. Visual fields showed moderate concentric contraction in the two sisters and marked concentric contraction in the brother. Amplitudes of the single flash electroretinogram were moderately reduced in the sisters, the test was nonrecordable in one eye and extensively reduced in the other eye of the brother. The electrooculogram was borderline in the elder sister and abnormal in the brother and younger sister. Visual evoked cortical potential (VECP) were abnormal in the high myopic eye in each of the two sisters. Ophthalmological findings including electrophysiological examinations may help to confirm the diagnosis of this multisystem familial disorder.
动脉肝发育不良（阿拉吉列综合征）是一种与眼部异常相关的先天性胆汁淤积性疾病。对三名患有该综合征的日本同胞进行了研究，分别是一名14岁女孩、一名11岁男孩和一名9岁女孩。所有三名患者均表现为新生儿黄疸、肝功能障碍、特征性面容和精神发育迟缓。两姐妹有心脏杂音。眼科检查发现他们有后胚胎环、屈光不正、视网膜脉络膜变性和电生理异常。两姐妹表现为视网膜脉络膜变性和单侧高度近视，而弟弟表现为明显的视网膜脉络膜变性伴广泛色素团块。视野检查显示两姐妹有中度同心性收缩，弟弟有明显的同心性收缩。两姐妹单次闪光视网膜电图振幅中度降低，弟弟一只眼测试无记录，另一只眼广泛降低。眼电图在姐姐中处于临界状态，在弟弟和妹妹中异常。两名姐妹中每人均为高度近视眼的视觉诱发电位（VECP）异常。包括电生理检查在内的眼科检查结果可能有助于确诊这种多系统家族性疾病。
