What is BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome

BPES (Blepharophimosis Ptosis Epicanthus Inversus Syndrome) is a rare genetic disorder that affects the development of the eyelids and surrounding structures. It is characterized by a combination of four main features: blepharophimosis (narrowing of the eyelid openings), ptosis (droopy eyelids), epicanthus inversus (an upward fold of skin near the inner corner of the eye), and telecanthus (increased distance between the inner corners of the eyes).

BPES is typically present at birth and can vary in severity among affected individuals. The condition may affect one or both eyes and can lead to functional and cosmetic issues. Individuals with BPES may experience difficulty fully opening their eyes, which can affect their vision and cause eye strain. Additionally, the characteristic appearance of the eyelids may impact self-esteem and social interactions.

BPES is caused by mutations in specific genes involved in eyelid development. It can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation involved. Genetic testing and evaluation by a healthcare professional specializing in genetics can help confirm a diagnosis.

Treatment for BPES is focused on managing the symptoms and may involve surgical interventions to correct eyelid abnormalities and improve vision. Regular follow-up with an ophthalmologist is important to monitor and address any potential complications.