| Ocular pathologic features of arteriohepatic dysplasia (Alagille's syndrome). | |
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MedLine Citation:
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PMID: 2240136 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Arteriohepatic dysplasia (Alagille's syndrome), an autosomal dominant condition involving jaundice caused by a developmental scarcity of intrahepatic bile ducts, has characteristic cardiovascular, skeletal, facial, and ocular features that distinguish it from extrahepatic biliary atresia and an array of other neonatal intrahepatic cholestatic disorders. Two children who died of this syndrome had prominent Schwalbe's rings with attached iris strands characteristic of Axenfeld's syndrome. Additional histologic findings of iris atrophy and stromal nodules, however, made the designation Axenfeld-Reiger's syndrome more appropriate. Pigmentary retinopathy, degeneration of Bruch's membrane, and prominent lipofuscin deposition in the ciliary muscle noted in one of the patients were not regarded as primary changes of Alagille's syndrome, but were believed to be secondary to acquired deficiency of the fat-soluble vitamins A and E. Early recognition of the ocular changes in arteriohepatic dysplasia is helpful in establishing the proper diagnosis to avoid unnecessary abdominal surgery and institute vitamin therapy. |
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Authors:
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B L Johnson |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of ophthalmology Volume: 110 ISSN: 0002-9394 ISO Abbreviation: Am. J. Ophthalmol. Publication Date: 1990 Nov |
Date Detail:
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Created Date: 1990-12-12 Completed Date: 1990-12-12 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370500 Medline TA: Am J Ophthalmol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 504-12 Citation Subset: AIM; IM |
Affiliation:
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Department of Pathology, University of Pittsburgh School of Medicine, Pennsylvania. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Child Ciliary Body / ultrastructure Common Bile Duct / abnormalities* Eye / ultrastructure* Female Humans Infant Infant, Newborn Iris / ultrastructure Jaundice / complications Jaundice, Neonatal Liver Transplantation Male Pigment Epithelium of Eye / ultrastructure Retina / ultrastructure Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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