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What You Need To Know About BPES Condition

Getting a normal child is every couples expectation. In rare cases, however, some children may be born with rare conditions affecting their physical appearance, mental state or their general growth. Such children born with these genetic conditions may have difficulties as they grow up and their families also get a share of the child’s predicament. The conditions not only affect the patient’s list of possible activities or jobs but they have been known to be a cause of stigma in some places.

One such rare genetic disease is the Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome often called BPES. Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome is a disease in infants. The eyes and the reproductive system of patients are the two parts affected most by this condition. Research has shown that BPES is a hereditary disease. This means that the families with individuals with the condition have the highest probability of passing it on to their offspring. Retarded growth, mental handicap and physical deformities just like in other genetic diseases may be present in BPES patients. There however are two very specific symptoms associated with BPES patients.

Individuals with the condition are mostly identified by the deformed eyelids. Vision becomes impaired in these individuals due to malformation of the eyelids. The eyelids will be drooping and do not open well. Apart from the drooped eyelids, the distance between corners of the eyes is enlarged and such eyes do not see well. What a long distance between the corners of the eyes does is to prevent easy movement of the eyeball reducing the ability of the eye to make a clear vision.

Apart from having drooping eyelids, some people with BPES have the disease-causing its symptoms in the reproductive system. Young girls and women affected by the condition will have a problem of premature ovarian failure. The women and girls have normal ovaries that are not functioning. sometimes, even an ultrasound scan does not detect this condition. Unless this condition is rectified, the patients are rendered infertile.

Having identified the condition and its symptoms, we will now see if there are remedies available. Drooping eyelids may be left as they are if their drooping does not affect the vision of the patient. For eyelids that impair vision, eyelid surgery is performed. The surgery involves lifting of the drooping eyelids and the patient goes on with his or her normal life. Rectification of the ovarian failure can also be done if the condition is identified. The correction of the failure is by addition or replacement of hormones that help the ovary perform its functions. The hormones added include estrogen and progesterone which are reproductive hormones. Upon doing this, the patient’s ovaries become functional.

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