This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is present at birth and mainly involves the development of the eyelids. Symptoms of BPES include a narrow eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the lower eyelid (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because the eyelids cannot open fully, vision may be limited. There are two types of BPES. Type 1 includes the eye involvement and premature ovarian failure (POF). In type 2, only the eyes are involved. BPES is caused by variants in the FOXL2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Treatment is based on managing the symptoms and involves eyelid surgery. BPES, type 1 may also be treated with hormone replacement therapy.
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