Brodsky M C, Cunniff C
University of Arkansas for Medical Sciences, Department of Ophthalmology, Little Rock.
Ophthalmology. 1993 Dec;100(12):1767-74. doi: 10.1016/s0161-6420(93)31399-0.
The Alagille syndrome (arteriohepatic dysplasia) is a well-recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile bile ducts, peripheral pulmonary artery hypoplasia with variable cardiac abnormalities, cholestatic facies, butterfly-like vertebral arch defects, and variable ocular anomalies, most commonly posterior embryotoxon and pigmentary retinopathy.
The authors studied ocular findings in six patients from two families with Alagille syndrome to characterize more fully the spectrum of ocular anomalies in this disorder.
Ocular anomalies consisted of a peculiar mosaic pattern of iris stromal hypoplasia in all patients, posterior embryotoxon and microcornea in five patients, anomalous optic discs in five patients, regional peripapillary retinal depigmentation in three patients, and a congenital maculopathy in one patient.
The Alagille syndrome comprises a broad spectrum of ocular anomalies involving the cornea, iris, retina, and optic disc. In the setting of neonatal cholestasis, the findings of microcornea, posterior embryotoxon, mosaic iris stromal hypoplasia, regional peripapillary depigmentation, congenital macular dystrophy, and anomalous optic discs should suggest the diagnosis of Alagille syndrome.
阿拉吉列综合征（动脉肝发育不良）是一种公认的多畸形综合征，包括肝内胆管稀少、外周肺动脉发育不全并伴有多种心脏异常、胆汁淤积面容、蝶形椎弓缺损以及多种眼部异常，最常见的是后胚胎环和色素性视网膜病变。
作者研究了来自两个患有阿拉吉列综合征家族的6例患者的眼部表现，以更全面地描述该疾病眼部异常的范围。
眼部异常包括所有患者均出现的虹膜基质发育不全的特殊镶嵌样模式、5例患者出现后胚胎环和小角膜、5例患者出现视神经盘异常、3例患者出现视乳头周围局部视网膜色素脱失以及1例患者出现先天性黄斑病变。
阿拉吉列综合征包括一系列累及角膜、虹膜、视网膜和视神经盘的眼部异常。在新生儿胆汁淤积的情况下，小角膜、后胚胎环、虹膜基质镶嵌样发育不全、视乳头周围局部色素脱失、先天性黄斑营养不良以及视神经盘异常等表现应提示阿拉吉列综合征的诊断。
