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Ocular System

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

Characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus.

Characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus.

  • Autosomal dominant inheritance (FOXL2 gene)

Classification

BPES type I:

Includes the 4 major features and premature ovarian insufficiency (POI)

BPES type II:

Includes only the four major features

Clinical features

Blepharophimosis:

Narrowing of the horizontal aperture of the eyelids
  • Normal horizontal palpebral fissure: 25-30 mm
  • BPES: 20-22 mm

Ptosis:

Drooping of the upper eyelid causing a narrowing of the vertical palpebral fissure (secondary to dysplasia of the musculus levator palpebrae superioris)
  • Compensatory wrinkling the forehead to draw the eyebrows upward (characteristic facial appearance)
  • Backward tilting of head into a chin-up position

Epicanthus inversus:

Skin fold arising from the lower eyelid and running inwards and upwards

Telecanthus

Lateral displacement of the inner canthi with normal interpupillary distance.

Other features:

  • Lacrimal duct anomalies
  • Amblyopia
  • Strabismus
  • Refractive errors
  • Minor features: Broad nasal bridge, low-set ears, and a short philtrum

Diagnosis

The diagnosis of BPES is primarily based on clinical findings.


Management

Medial canthoplasty

Correction of the blepharophimosis, epicanthus inversus, and telecanthus at age three to five years, typically followed a year later by ptosis correction

Hormone replacement therapy (HRT):

Addresses premature ovarian failure

Assisted reproductive technologies (ART):

Addresses infertility
  • Embryo donation
  • Egg donation

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