Nischal K K, Hingorani M, Bentley C R, Vivian A J, Bird A C, Baker A J, Mowat A P, Mieli-Vergani G, Aclimandos W A
Oxford Eye Hospital, England.
Ophthalmology. 1997 Jan;104(1):79-85. doi: 10.1016/s0161-6420(97)30358-3.
Alagille syndrome (AS) is one of six forms of familial intrahepatic cholestasis, all of which present with neonatal jaundice and paucity of intrahepatic bile ducts. Differentiation of these individual syndromes is crucial as their treatments and prognoses vary. It is the ophthalmic features, posterior embryotoxon on particular, that distinguish AS.
The authors performed full ocular examination, including A- and B-scan ultrasound, refraction, and, where possible, fluorescein angiography in 20 unrelated children with AS and 8 with non-AS-related cholestasis.
There was ultrasound evidence of optic disc drusen in at least one eye in 95% and bilateral disc drusen in 80% of patients with AS but in none of the patients who were non-AS at the time of examination. Independent review of hard-copy scans suggested drusen in at least one eye in 90% of the cases and bilateral drusen in 50%, although this latter figure rose to 65% on review of the angiograms. This is markedly higher than the incidence in the normal population (0.3%-2%). Axial lengths were shorter than expected for the older age group (older than 10 years of age), but this was not associated with gross ametropia.
This strong association of AS and optic disc drusen has not been reported previously and represents not only the first significant association between a systemic condition and disc drusen but also a possibly useful tool in the diagnosis of AS, especially in young children.
阿拉吉尔综合征（AS）是家族性肝内胆汁淤积六种类型之一，所有这些类型均表现为新生儿黄疸和肝内胆管稀少。由于这些个体综合征的治疗方法和预后各不相同，因此对它们进行区分至关重要。正是眼部特征，尤其是后胚胎环，将AS区分开来。
作者对20名患有AS的非亲属儿童和8名患有非AS相关胆汁淤积的儿童进行了全面的眼部检查，包括A超和B超超声检查、验光，并在可能的情况下进行荧光素血管造影。
在患有AS的患者中，95%的患者至少有一只眼睛存在视盘玻璃疣的超声证据，80%的患者双眼有视盘玻璃疣，而在检查时非AS的患者中则没有。对硬拷贝扫描的独立评估表明，90%的病例至少有一只眼睛存在玻璃疣，50%的病例双眼有玻璃疣，不过在查看血管造影片时，后一数字升至65%。这明显高于正常人群的发病率（0.3%-2%）。眼轴长度比年龄较大组（10岁以上）预期的要短，但这与明显的屈光不正无关。
AS与视盘玻璃疣之间的这种强关联以前未曾有过报道，这不仅代表了一种全身性疾病与视盘玻璃疣之间的首个重要关联，而且可能是诊断AS的一个有用工具，尤其是在幼儿中。
