Contents
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