Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES) is a rare genetic condition characterized by a combination of eyelid abnormalities. These include blepharophimosis, which is a narrowing of the eye opening; ptosis, a drooping of the upper eyelids; and epicanthus inversus, a fold of skin that arises from the lower eyelid and covers the inner corner of the eye. This condition can affect an individual's vision and appearance, and it may require surgical intervention to correct the eyelid abnormalities.

Etiology and Genetics

BPES is primarily caused by mutations in the FOXL2 gene, which plays a crucial role in the development of the eyelids and ovaries. The condition is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. There are two types of BPES: Type I, which includes the eyelid abnormalities along with premature ovarian failure (POF), and Type II, which involves only the eyelid abnormalities.

Symptoms and Diagnosis

The hallmark symptoms of BPES include:

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

Diagnosis of BPES is primarily based on clinical examination and the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the FOXL2 gene.

Management and Treatment

Treatment of BPES often involves surgical interventions to correct the eyelid abnormalities, improve vision, and enhance cosmetic appearance. Surgical procedures may include:

• Correction of ptosis to elevate the drooping eyelids.
• Repair of blepharophimosis to widen the eye opening.
• Addressing epicanthus inversus and telecanthus to improve the appearance of the eyes.

In cases of BPES Type I, management also includes monitoring and treatment for premature ovarian failure, which may involve hormone replacement therapy.

Prognosis

The prognosis for individuals with BPES varies. Surgical interventions can significantly improve vision and cosmetic appearance. However, individuals with BPES Type I may experience complications related to premature ovarian failure, including infertility.

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

• Eyelid disorders
• Genetic disorders
• Ovarian diseases

References

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