Romanchuk K G, Judisch G F, LaBrecque D R
Can J Ophthalmol. 1981 Apr;16(2):94-9.
The ocular findings in a father and two offspring with arteriohepatic dysplasia are reported in this paper. All three people had bilateral posterior embryotoxon, Axenfeld's anomaly and a pigmentary retinopathy. Other ocular findings were exotropia, an ectopic pupil, band keratopathy, choroidal folds, anomalous optic discs and infantile myopia. Persons with arteriohepatic dysplasia typically present with prolonged neonatal jaundice. Cognizance of the associated eye findings helps distinguish this syndrome from other types of familial intrahepatic cholestasis.
本文报告了一位患有动脉肝发育不良的父亲及其两个后代的眼部检查结果。这三人都有双侧后胚胎环、阿克森费尔德异常和色素性视网膜病变。其他眼部检查结果包括外斜视、瞳孔异位、带状角膜病变、脉络膜皱褶、视神经盘异常和婴儿型近视。动脉肝发育不良患者通常表现为新生儿黄疸持续时间延长。认识到相关的眼部检查结果有助于将该综合征与其他类型的家族性肝内胆汁淤积症区分开来。
