Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a congenital (from birth) condition that affects the development of the eyelids and eye movement. In this condition, the eyelids are abnormally narrow, there is a vertical fold of skin from the lower eyelid up to the nose, and there is drooping of the lower eyelids. Additionally, vision can be limited because these symptoms affect how much the eyes can open, and individuals have a greater chance of developing nearsightedness or farsightedness. Other symptoms include repetitive and uncontrolled jerky eye movements (nystagmus) or strabismus (when the muscles of the eyes do not work properly and eyes often look in different directions at the same time).
There are two subtypes of the condition which are based on their signs and symptoms. Additionally, many females with type I of the condition lose ovarian function early in life, and may eventually become infertile.
BPES is a genetic condition caused by changes in the FOXL2 gene. We inherit our genes in pairs, one from each parent typically. BPES is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.
BPES is typically diagnosed based on clinical findings, and may be confirmed with genetic testing to look for changes in the FOXL2 gene. Treatment for BPES may include eyelid surgery that usually occurs between the ages of 3 to 5 years. If an individual experiences premature ovarian failure, treatment usually include hormone replacement therapy, where an individual is generally given estrogen and progesterone. Additionally, infertility may be addressed with other methods of reproduction such as embryo or egg donation.
Description Last Updated: Sep 03, 2018