Ophthalmic genetics · 2009
Congenital alacrima in a patient with blepharophimosis syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Athappilly Geetha K, Braverman Rebecca Sands
Аннотация
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.
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.