Blepharophimosis syndrome with absent tear production.
The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, despite clinically present palpebral lobes of the lacrimal glands. BPES is an autosomal dominant condition characterized by narrowed horizontal palpebral fissures, severe bilateral symmetric ptosis, epicanthus inversus, and telecanthus. To the authors' knowledge, this represents the second reported case of congenital alacrima in this syndrome. The first case described in the literature was in a 9-month-old girl who had congenital absence of the lacrimal glands. BPES may present with alacrima requiring vigilant lifelong lubrication and careful consideration in decisions for eyelid surgery including ptosis repair.
*Oregon Health and Science University, Casey Eye Institute; and †EyeHealth Northwest, Portland, Oregon, U.S.A.
Jacqueline K
JK
Ng
Ann U
AU
Stout
Aazy A
AA
Aaby
John D
JD
Ng
D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics; D018389:Codon, Nonsense; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D007223:Infant; D007766:Lacrimal Apparatus Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics
D018389:Codon, Nonsense; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors