| Congenital alacrima in a patient with blepharophimosis syndrome. | |
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MedLine Citation:
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PMID: 19172509 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To report a case of congenital alacrima in a patient with Blepharophimosis Syndrome (BPES). METHODS: Case report of a 9-month-old female who presented with severe dry eyes. Further investigation revealed bilateral absence of lacrimal glands confirmed by CT. This unique case and its management are discussed. RESULTS: Conservative management with artificial tears and ointment did not treat the ocular surface dryness. A combination of aggressive lubrication with surgical occlusion of the lower lid punctums was required to improve the corneal surface. CONCLUSION: BPES can be associated with many ophthalmic and facial abnormalities. Review of the pubmed literature, reveals this is the first reported case of alacrima and BPES. Patient with alacrima have severe ocular surface dryness, which requires aggressive and life long lubrication and tear supplementation. |
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Authors:
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Geetha K Athappilly; Rebecca Sands Braverman |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 30 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-01-27 Completed Date: 2009-03-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 37-9 Citation Subset: IM |
Affiliation:
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The University of Colorado at Denven and Health Services Center, Rocky Mountain Lions Eye Institute, Denver, CO 80045, USA. geetha.athappily@UCHSC.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Blepharophimosis
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complications*,
genetics,
therapy Chromosome Deletion Chromosomes, Human, Pair 3 / genetics Dry Eye Syndromes / etiology*, therapy Eye Abnormalities / complications*, genetics, therapy Female Humans Infant Karyotyping Lacrimal Apparatus / abnormalities* Lubricants / therapeutic use Ophthalmic Solutions / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Lubricants; 0/Ophthalmic Solutions |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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