Document Detail

Congenital alacrima in a patient with blepharophimosis syndrome.
MedLine Citation:
PMID:  19172509     Owner:  NLM     Status:  MEDLINE    
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.
Geetha K Athappilly; Rebecca Sands Braverman
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  30     ISSN:  1744-5094     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-01-27     Completed Date:  2009-03-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  37-9     Citation Subset:  IM    
The University of Colorado at Denven and Health Services Center, Rocky Mountain Lions Eye Institute, Denver, CO 80045, USA.
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MeSH Terms
Blepharophimosis / complications*,  genetics,  therapy
Chromosome Deletion
Chromosomes, Human, Pair 3 / genetics
Dry Eye Syndromes / etiology*,  therapy
Eye Abnormalities / complications*,  genetics,  therapy
Lacrimal Apparatus / abnormalities*
Lubricants / therapeutic use
Ophthalmic Solutions / therapeutic use
Reg. No./Substance:
0/Lubricants; 0/Ophthalmic Solutions

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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