What Are The Symptoms Of The BPES Genetic Condition?

Getting a normal child is every couples expectation. The children begot to couples sometimes may come with rare conditions that can affect their general growth or state of mind. When children are born with these rare genetic conditions, not only do they have difficulties but their families too feel the pinch. These people may be affected by stigmatization in certain localities, how they mingle with the others and the types of jobs they can do are limited.

BPES is the abbreviation of one such genetic condition called the Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome. 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. BPES has been classified as a hereditary disease through research. High probability of getting a child with the condition are therefore within families with individuals having the genetic conditions. 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.

The first most common symptom shown in individuals with BPES is defects in the eye and specifically the eyelids. Vision becomes impaired in these individuals due to malformation of the eyelids. The eyelids will be drooping and do not open well. Vision also becomes impaired because the distance between corners of the eye is increased. Elongated distance between the corners of the eye affects movement of the eyeball hence impaired vision.

Apart from having drooping eyelids, some people with BPES have the disease-causing its symptoms in the reproductive system. Premature ovarian failure is what young girls and women with the genetic condition suffer from. Though they have normal ovaries, their ovaries will not be functional. It is even hard for the premature ovarian failure to be detected by an ultrasound scan. 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. 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. 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. Hormones involved in the functioning of the ovary are added into the system artificially. The hormones added include estrogen and progesterone which are reproductive hormones. The hormones bring back the functioning of the ovaries.

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