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Understand The BPES Condtion

The expectations of any couple expecting a baby is to have a normal child. 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. Apart from being stigmatized in some places, the type of jobs or activities they engage in are limited.

One such rare genetic disease is the Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome often called BPES. BPES is a condition that affects infants from their birth classifying it as a congenital disease. The condition affects the patient’s eyes and the reproductive system. BPES has been classified as a hereditary disease through research. This means that the families with individuals with the condition have the highest probability of passing it on to their offspring. The disease has common symptoms experienced in genetic conditions such as growth retardation, mental problems and physical malformations. BPES in addition to these has two major symptoms special to it.

Eyelid deformities of a BPES patient are the first and most common symptom. Vision becomes impaired in these individuals due to malformation of the eyelids. The eyelids will be drooping and do not open well. The eyelids drooping is not the only problem as the eyes may also have a problem with the distance between the corners of the eyes which in this condition are long. In such a case the eyeball does is not able to make movements reducing the ability of the eye to see clearly.

Other people with BPES may not have drooping eyelids but their condition affects the reproductive system. Young girls and women affected by the condition will have a problem of premature ovarian failure. Their ovaries may be normally formed but not functional. The premature ovarian failure is sometimes not even detected by ultrasound scans as the women appear normal. Failure to correct the condition however means that the patient cannot reproduce.

With the genetic condition and its symptoms already identified, we will look at some of the available treatments. The drooping of eyelids is sometimes left if the eyelid drooping does not prevent vision. 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. This is done by artificial addition or replacement of hormones involved in functioning off the ovaries. The hormones added include estrogen and progesterone which are reproductive hormones. These rejuvenate the ovaries and the start functioning properly.

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