1. Congenital alacrima in a patient with blepharophimosis syndrome.
- Author
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Athappilly GK and Braverman RS
- Subjects
- Blepharophimosis genetics, Blepharophimosis therapy, Chromosome Deletion, Chromosomes, Human, Pair 3 genetics, Dry Eye Syndromes therapy, Eye Abnormalities genetics, Eye Abnormalities therapy, Female, Humans, Infant, Karyotyping, Lubricants therapeutic use, Ophthalmic Solutions therapeutic use, Blepharophimosis complications, Dry Eye Syndromes etiology, Eye Abnormalities complications, Lacrimal Apparatus abnormalities
- Abstract
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.
- Published
- 2009
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