What is Blepharophimosis Syndrome?
Updated: Apr 9, 2020
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES or Blepharophimosis Syndrome for short) is a rare inherited eyelid syndrome that presents with four major facial features:
blepharophimosis (horizontal shortening of the palpebral fissures, i.e., the eyes appear more narrow)
epicanthus inversus (prominent skin folds extending from the lower to the upper eyelid)
telecanthus (widened distance between the medial canthi - the inner corners of the eyes - resulting in the eyes appearing spaced more widely apart)
ptosis (upper eyelid droop resulting in vertical narrowing of the palpebral fissures, due to maldevelopment of the levator palebrae muscle, which normally lifts the eyelid)
These features cause difficulty in opening the eyes fully, which may affect the development of the individual’s visual system (causing amblyopia) and the quality of their vision.
There are two types of BPES:
Type I involves premature ovarian insufficiency (POI) in females. Menstrual periods in women with POI become less frequent over time and stop prematurely, often leading to either difficulty or inability to conceive (infertility)
Type II has no systemic associations, and is characterized by the above facial features alone
BPES is caused by a mutation in a gene called FOXL2, which controls the production of the FOXL2 protein. This protein, in turn, is involved in the development of the muscles in the eyelids as well as the growth and development of ovarian cells. This disease-causing change in the FOXL2 gene leads to maldevelopment of the eyelids (and often the ovaries), thus giving rise to the signs and symptoms of BPES.
BPES is almost always inherited in an autosomal dominant manner, i.e., the altered gene can be inherited from either the father or the mother. Less commonly, the disorder is not inherited from the parents and can be the result of a new spontaneous genetic mutation (de novo) in the affected individual.
Treatment for BPES must address both the eyelid malformations and the premature ovarian insufficiency in Type I patients.
Managing the eyelid malformation requires corrective eyelid surgery. Surgery is performed to correct the blepharophimosis, the epicanthis inversus, the telecanthus, and the eyelid ptosis. Although these procedures are traditionally performed in two stages, it is possible to do them simultaneously.
Patients with BPES type I are often managed with hormone replacement therapy for premature ovarian insufficiency and with embryo (egg) donation for problems with fertility.
On a recent medical mission trip to San Cristóbal de Las Casas in Chiapas, Mexico, I met the most adorable 3-year-old girl with BPES. I performed corrective surgery on her eyelids, which included epicanthoplasty, medial canthopexy, lateral canthoplasty, and eyelid ptosis repair. Even at two weeks after surgery, her eyes appeared wider and more open, despite the swelling and early healing.
For more information about blepharophimosis syndrome or to schedule a consultation, call us at 858.356.2647
These are images of actual patients of Dr. Jean-Paul Abboud. They are shown for informational purposes only and are provided with patient consent for use on this website. Please do not copy or distribute images/videos. Each individual’s treatment and/or results will vary, and no guarantee is stated or implied by any photo or statement used on this website