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Blepharophimosis is a congenital condition characterized by narrow eyelid fissures and drooping eyelids. It is often associated with visual disturbances and is caused by genetic abnormalities. Treatment may involve surgery and genetic evaluation.
Blepharophimosis is a condition characterized by the horizontal narrowing of the eyelid fissures or the opening of the eyes. It is often associated with ptosis, drooping eyelids on both eyes. The condition is mostly congenital, meaning that the blepharophimosis eyelid malformation is already present at birth. In normal adults, the horizontal opening of the eyelid usually measures 0.98 to 1.18 inches (about 25 to 30 mm), while in individuals with blepharophimosis it measures about 0.78 to 0.86 inches (20 to 22 mm).
The causes of blepharophimosis mainly result 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 abnormal eyelid development. Because of this prominent malformation, the eyes cannot fully open, leading to limitations in the sense of vision. Visual disturbances associated with blepharophimosis frequently include ambilopia, otherwise known as lazy eye; strabismus, a condition in which both eyes do not point in the same direction; farsightedness, or farsightedness; and nearsightedness, also known as nearsightedness.
The condition is often part of a syndrome known as blepharophimosis, ptosis, and inverse epicanthus syndrome (BPES). BPES is a rare hereditary disease and mostly congenital in nature. It is inherited in an autosomal dominant pattern in which one copy of the abnormal gene from an affected parent is sufficient 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 nose bridge, raised eyebrow height, abnormal positioning of the inner corner of the eye, and cupped ears.
In most cases, patients with blepharophimosis are under the care of an ophthalmologist, a doctor who specializes in managing and treating eye disorders and diseases. There are also pediatric ophthalmologists for eye disorders in children. Eye exams are often performed on patients to evaluate their visual acuity, eye muscle movements, eye opening size, and eyelid elevation.
Treatment is often focused on treating the deformities caused by the condition. You may need surgery; however, the timing of the intervention is often considered and generally depends on the severity of the disorder and its overall benefit to the patient. A medial cantoplasty can be done during surgery to correct blepharophimosis and inverse epicanthal, often when the child is between three and five years old. Genetic evaluation, as well as counseling, are sometimes needed in the management of these patients.
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