Blepharophimosis syndrome with absent tear production

Jacqueline K. Ng, Ann U. Stout, Aazy A. Aaby, John Ng

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
JournalOphthalmic Plastic and Reconstructive Surgery
DOIs
StateAccepted/In press - Apr 25 2014

Fingerprint

Tears
Eyelids
Lacrimal Apparatus
Lubrication
Genetic Testing
Blepharophimosis, Ptosis, and Epicanthus Inversus
Congenital Alacrima

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

Cite this

Blepharophimosis syndrome with absent tear production. / Ng, Jacqueline K.; Stout, Ann U.; Aaby, Aazy A.; Ng, John.

In: Ophthalmic Plastic and Reconstructive Surgery, 25.04.2014.

Research output: Contribution to journalArticle

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