The Beginners Guide To Resources (Chapter 1)
What Are The Symptoms Of The BPES Genetic Condition?
Any couple expecting a child often have hope for a normal child. The children begot to couples sometimes may come with rare conditions that can affect their general growth or state of mind. 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.
BPES is the abbreviation of one such genetic condition called the Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome. BPES is a condition that affects infants from their birth classifying it as a congenital disease. The eyes and the reproductive system of patients are the two parts affected most by this condition. BPES has been classified as a hereditary disease through research. Families with individuals having the condition, therefore, have very high probabilities of getting offspring with the condition. Just like all the other genetic conditions, patients will have some of the common symptoms of genetic diseases like retarded growth, mental handicap and physical deformities. 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. Malformed eyelids impair the vision of the patients. 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. This is mostly for young girls and women who when affected by the genetic condition have premature failure of the ovaries. The women and girls have normal ovaries that are not functioning. It is even hard for the premature ovarian failure to be detected by an ultrasound scan. Failure to correct the condition however means that the patient cannot reproduce.
Now that the condition’s symptoms have been brought forward we will see what available solutions are there. If the drooping eyelid does not obstruct the vision of the patient, the eyelids are left to stay as they are. Eyelid surgery is however done in the cases where eyelids droop to the extent of impairing the vision. Once the eyelids are lifted through surgery, the patients can live a 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 patient’s body is given an injection of reproductive hormones like progesterone of estrogen. These rejuvenate the ovaries and the start functioning properly.