Blepharophimosis, ptosis, epicanthus inversus syndrome

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) is a rare genetic condition characterized by a distinctive set of eye abnormalities. The syndrome is primarily known for its impact on the eyelids and ocular region, leading to a unique facial appearance. This article provides a comprehensive overview of BPES, including its symptoms, causes, diagnosis, and treatment options.

Symptoms

BPES is marked by four major features:

• Blepharophimosis: A reduction in the horizontal width of the eye openings.
• Ptosis: Drooping of the upper eyelids, which may impair vision.
• Epicanthus inversus: A fold of skin that arises from the lower eyelid and covers the inner corner of the eye.
• Telecanthus: An increased distance between the inner corners of the eyes.

In addition to these primary characteristics, individuals with BPES may experience further ocular complications, such as strabismus (misalignment of the eyes) and amblyopia (lazy eye).

Causes

BPES is a genetic disorder caused by mutations in the FOXL2 gene. This gene plays a crucial role in the development of the eyelids and ovaries. There are two types of BPES:

• Type I: Associated with the eye symptoms as well as premature ovarian failure, leading to infertility.
• Type II: Involves only the eye symptoms without affecting fertility.

The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of BPES is primarily based on clinical evaluation and the characteristic features of the syndrome. Genetic testing can confirm the diagnosis by identifying mutations in the FOXL2 gene. Ophthalmologic examination is crucial for assessing the extent of the eye abnormalities and planning appropriate treatment.

Treatment

Treatment for BPES focuses on improving functional issues and cosmetic appearance. Surgical interventions may include:

• Eyelid surgery: To correct ptosis and blepharophimosis, enhancing vision and eye function.
• Strabismus surgery: To align the eyes properly, if necessary.
• Epicanthus inversus correction: To address the fold of skin covering the inner corner of the eye.

Early intervention is recommended to prevent the development of amblyopia and to improve cosmetic outcomes. In cases of BPES Type I, consultation with a reproductive endocrinologist may be beneficial for addressing issues related to premature ovarian failure.

Prognosis

With appropriate treatment, individuals with BPES can lead normal, healthy lives. Surgical interventions can significantly improve vision and appearance, although multiple surgeries may be required over time to adjust to the individual's growth and development.

Epidemiology

BPES is a rare condition, though the exact prevalence is unknown. It affects males and females equally and has been reported in various ethnic groups worldwide.

See Also

• Genetic disorder
• Ptosis (eyelids)
• Strabismus
• Amblyopia