OCULAR ANOMALIES IN THE ALAGILLE SYNDROME (ARTERIOHEPATIC DYSPLASIA)

Background. The Alagille syndrome (arteriohepatic dysplasia) is a well -recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile ducts, peripheral pulmonary artery hypoplasia with v ariable cardiac abnormalities, cholestatic facies, butterfly-like vert ebral arch defects, and variable ocular anomalies, most commonly poste rior embryotoxon and pigmentary retinopathy. Methods: The authors stud ied ocular findings in six patients from two families with Alagille sy ndrome to characterize more fully the spectrum of ocular anomalies in this disorder. Results: Ocular anomalies consisted of a peculiar mosai c pattern of iris stromal hypoplasia in all patients, posterior embryo toxon and microcornea in five patients, anomalous optic discs in five patients, regional peripapillary retinal depigmentation in three patie nts, and a congenital maculopathy in one patient. Conclusion: The Alag ille 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, mosai c iris stromal hypoplasia, regional peripapillary depigmentation, cong enital macular dystrophy, and anomalous optic discs should suggest the diagnosis of Alagille syndrome.