Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: A Rare Ophthalmic Disorder

What is Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome?

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic disorder that affects the development of the eyelids.

Symptoms of BPES

The most common symptoms of BPES include:

• Blepharophimosis: Narrowing of the eyelid openings
• Ptosis: Drooping of the upper eyelids
• Epicanthus inversus: A skin fold that covers the inner corner of the eyes
• Telecanthus: A wide space between the eyes

Other symptoms may include dry eyes, difficulty closing the eyes, and impaired vision.

Causes of BPES

BPES is caused by mutations in genes that are involved in eyelid development. These mutations can be inherited in an autosomal dominant or autosomal recessive manner.

Treatment of BPES

There is no cure for BPES, but treatment can help to improve the symptoms. Treatment options may include:

• Surgery to correct the eyelid malformations
• Eye drops or ointments to relieve dry eyes
• Vision therapy to improve vision