What is Blepharophimosis?

Blepharophimosis is a condition characterized by the horizontal narrowing of the palpebral fissures, or eye opening. It is often associated with ptosis, drooping of the eyelids on both eyes. The condition is mostly congenital, meaning the blepharophimosis eyelid malformation is already present at birth. In normal adults, the horizontal eyelid opening usually measures approximately 0.98 to 1.18 inches (about 25 to 30 mm), while in individuals with blepharophimosis, it measures about 0.78 to 0.86 of an inch (20 to 22 mm).

Causes of blepharophimosis mostly arise from inherited genetic abnormalities. There are usually defects or mutations in the genes responsible for stimulating the production of a protein involved in eyelid formation, often resulting in an abnormal development of the eyelids. Due to this prominent malformation, the eyes cannot open fully, leading to limitations in the sense of sight. Visual disturbances associated with blepharophimosis frequently include ambylopia, otherwise known as lazy eye; strabismus, a condition where both eyes do not point in the same direction; hyperopia, or farsightedness; and myopia, also known as nearsightedness.

The condition is often part of a syndrome known as blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). BPES is a rare hereditary disorder and mostly congenital in nature. It is inherited through an autosomal dominant pattern wherein one copy of the abnormal gene from one affected parent is enough to cause the disorder in the child. Epicanthus inversus is the abnormal inversion of the skin folds of the upper eyelid. Other visible manifestations of BPES include a flat nasal bridge, increased height of the eyebrows, abnormal placement of the inner corner of the eye, and cupped ears.

In most cases, patients with blepharophimosis are under the care of an ophthalmologist, a medical doctor specializing in the management and treatment of eye disorders and diseases. There are also pediatric ophthalmologists for eye disorders in children. Eye examinations are frequently performed on patients to evaluate their visual acuity, movements of the eye muscles, size of eye opening, and elevation of the eyelids.

Treatment is often focused on treating the deformities brought about by the condition. Surgery may be needed; however, timing of surgery is often considered and generally depends on the severity of the disorder and its overall benefit to the patient. A medial canthoplasty may be performed during surgery to correct blepharophimosis and epicanthus inversus, often when the child is between three to five years old. Genetic evaluation, as well as counseling, are sometimes needed in the management of these patients.