Blepharophimosis syndrome

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Blepharophimosis syndrome
Classification and external resources
ICD-10 H02.5


Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES), inherited eyelid syndrome presenting with telecanthus, epicanthus inversus, and ptosis.

Disease Entity

Oculoplastics

Disease

It is an uncommon dysmorphic syndrome, which primarily affect the soft tissues of the mid-face, with signs include:

  • Blepharophimosis
  • Ptosis
  • Epicanthus inversus
  • Telecanthus.
  • Ectropion
  • Strabismus
  • High arched brows
  • Lop ears


Two types:

  • Type 1 : associated with primary ovarian failure .
  • Type 2: no systemic association .


Etiology

Inherited as autosomal dominant with up-to 50% happened sporadically

Pathophysiology

BPES types I and II were each mapped on the long arm of chromosome 3, due to mutations within, or influencing FOXL2 gene, Its protein product expressed in lids and ovaries.

Diagnosis

Mostly diagnosis is made by the clinical features which include:

  • Blepharophimosis (horizontal shortening of palpebral fissure)
  • Ptosis (droopy lid)
  • Epicanthus inversus ( prominent skin fold extend from lower to the upper lid)
  • Telecanthus (widened intercanthal distance )


Other associations include lower lid ectropion, widened nasal bridge or superior orbital rim hypoplasia, or hypertelorism, anteverted ears, and thick highly arched eyebrows .

Family history of similar appearance , diagnosis or primary ovarian failure can help making the diagnosis.

Laboratory test

Molecular Genetic testing performed in the context of genetic counseling or confirming the diagnosis.

Differential diagnosis

  • Congenital ptosis
  • Isolated blepharophimosis
  • Other dysmorphic syndromes

Management

Management of BPES is primarily surgical if indicated (see indication of treatment in blepharoptosis ). Care should be given to treat assoicated amblyopia.

The usual sequence of surgical treatment is correction of the epicanthic folds at about the age of 3–4 years and correction of the ptosis about 9–12 months later. Early surgery may be necessary for amblyopia .

Epicanthus fold and telecanthus :

Double Z or Y-Z plasties, transnasal wiring or plating of the medial canthal tendons.

Ptosis:

  • Usually is corrected with a brow suspension procedure (frontalis sling).
  • One stage correction of the telecanthus, epicanthic folds and the ptosis has been reported, although often a staged approach is done.

Primary ovarian falure:

  • Various pharmacological therapies have been shown to be ineffective .
  • Embryo cryopreservation .
  • Hormone replacement therapy to reduce the early post-menopause effect.

Prognosis

Good surgical results have been published, with the possibilities of having more than one surgery.

Additional Resources