What is bpes?

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic condition that affects the eyelids and can also cause other abnormalities in the eye area. There are two types of BPES: type I, which includes eyelid defects and infertility in females, and type II, which includes only the eyelid defects.

Symptoms of BPES usually manifest in infancy or early childhood and can include droopy eyelids (ptosis), narrow eye openings (blepharophimosis), and folds of skin that cover the inner corners of the eyes (epicanthus inversus). These eye abnormalities can cause vision problems and may require surgical correction.

BPES is caused by mutations in the FOXL2 gene, which plays a role in eyelid and ovarian development. The condition is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one mutated gene from a parent in order to develop the syndrome.

Treatment for BPES typically involves surgery to correct the eyelid abnormalities and improve functionality and appearance. Hormone therapy may also be needed in females with infertility due to the condition. Genetic counseling is recommended for individuals and families affected by BPES to understand the risks of passing the condition on to future generations.