Ocular Anomalies in the Alagille Syndrome (arteriohepatic dysplasia)

Michael C. Brodsky, Christopher Cunniff

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


Background: The Alagille syndrome (arteriohepatic dysplasia) is a well-recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile ducts, pe-ripheral 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. Methods: 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. Results: 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. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)1767-1774
Number of pages8
Issue number12
StatePublished - 1993

ASJC Scopus subject areas

  • Ophthalmology


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