Blepharophimosis Syndrome

Excerpt

Blepharophimosis syndrome (BPES) is a relatively rare genetic condition that primarily affects eyelid formation and results in a distinctive facial appearance present at birth. This condition was first described by Komoto in 1921. The condition is characterized by the existence of a reduced horizontal opening of the eyelid (blepharophimosis), drooping of the upper eyelid (ptosis), increased distance between the inner corners of the eyes (telecanthus), and an upward fold of skin near the inner corner of the eye, where the medial eyelid skin fold appears more prominent in the lower eyelid, extending across the canthus and tapering into the upper eyelid (epicanthus inversus). These congenital features define the syndrome, hence the acronym BPES (see Image. Male Child with Blepharophimosis Syndrome).

Blepharophimosis syndrome is an autosomal dominant disease affecting the eyelids and mid-face structures. These characteristics significantly impact the patient's vision and facial appearance. BPES can also be associated with additional systemic defects, specifically premature ovarian insufficiency in females, resulting in BPES type I. Most cases are caused by mutations in FOXL2 on chromosome 3q23.

The structural defects observed in BPES are caused by the interruption of the development of the eyelid and related tissues during embryogenesis. The course of BPES is contingent upon the specific subtype and severity, resulting in varying outcomes. Some persons may encounter substantial visual impairment caused by ptosis, whereas others may be concerned with cosmetic issues. The condition has no propensity for dissemination but remains limited to the congenital structural defects. Nevertheless, if ptosis is not addressed, subsequent complications such as amblyopia may result, underscoring the importance of prompt detection and surgery.

There are 2 main types of BPES. Each type harbors the 4 classic clinical signs—blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Type I is associated with premature ovarian insufficiency, whereas type II is characterized by the classic facial features alone. These features are associated with a high incidence of amblyopia if not correctly managed. Both types require surgical treatment early in life for normal vision development (see Image. Male Child After Surgery for Blepharophimosis Syndrome).