Congenital alacrima in a patient with blepharophimosis syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
Athappilly
Geetha K
GK
The University of Colorado at Denven and Health Services Center, Rocky Mountain Lions Eye Institute, Denver, CO 80045, USA. geetha.athappily@UCHSC.edu
Braverman
Rebecca Sands
RS
D016569:Blepharophimosis / Q000150:complications* / Q000235:genetics / Q000628:therapy; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D015352:Dry Eye Syndromes / Q000209:etiology* / Q000628:therapy; D005124:Eye Abnormalities / Q000150:complications* / Q000235:genetics / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D054327:Lubricants / Q000627:therapeutic use; D009883:Ophthalmic Solutions / Q000627:therapeutic use
D054327:Lubricants; D009883:Ophthalmic Solutions