Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES)

Blepharophimosis, ptosis, and epicanthus inversus syndrome, or BPES, is a rare congenital disorder that affects the development of the eyelids and in some cases the ovaries. Individuals with this syndrome have shortened eyelids partially covering the eyes, resulting in a narrow eyelid opening. This finding is associated with ptosis, or drooping eyelids, and epicanthus inversus, which is a skin fold at the inner corner of the eye that runs inwards and upwards. 

There are two different types of BPES syndrome. BPES type I presents with all the characteristic facial features, along with premature ovarian insufficiency (POI) in genetic females. Premature ovarian insufficiency occurs when the ovaries stop ovulating and releasing sex hormones, such as estrogen and progesterone before the person is 40 years old. BPES type II, on the other hand, only presents with the characteristic facial features and has no other clinical manifestations. 

BPES is characterized by four major facial features, including blepharophimosis, or narrowing of the eyelid opening; ptosis, or drooping eyelids; wide-set eyes; and epicanthus inversus, which is a skin fold that extends from the lower to the upper eyelid. There may also be other facial features, such as a wide nasal bridge and highly arched eyebrows. Some individuals may present with additional eye problems, such as strabismus, or misalignment of the eyes; and refractive errors like myopia and astigmatism. 

In BPES type I, individuals also have symptoms of premature ovarian insufficiency (POI), including missed or infrequent menstrual periods and/or infertility, which is defined as the inability to conceive after one year of unprotected sex. The lack of estrogen and progesterone associated with POI can cause symptoms that are similar to natural menopause, such as hot flashes, night sweats, and vaginal dryness, which can lead to pain during sex.