| Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. | |
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MedLine Citation:
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PMID: 18076100 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on two patients with severe Smith-Lemli-Opitz syndrome who acutely developed postnatal cataracts. These postnatal cataracts appear to be due to a different pathological mechanism and have a different clinical course than the typical congenital cataracts that occur in SLOS. The rapid development of these cataracts suggests that dysfunction or rupture of the lens capsule leading to acute osmotic shifts contributes to their formation. In addition, cataract formation in these patients was associated with conjunctival injection, fibrotic irido-lenticular adhesions, and capsular fibrosis. These findings are suggestive an inflammatory component that is consistent with impaired competence of the lens capsule. |
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Authors:
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Halima Goodwin; Brian P Brooks; Forbes D Porter |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Jan |
Date Detail:
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Created Date: 2007-12-26 Completed Date: 2008-02-25 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 208-11 Citation Subset: IM |
Copyright Information:
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(c) 2007 Wiley-Liss, Inc. |
Affiliation:
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Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cataract
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diagnosis*,
etiology Humans Infant Smith-Lemli-Opitz Syndrome / diagnosis* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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