The expectations of any couple expecting a baby is to have 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.
Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome is one such genetic condition mostly abbreviated as BPES. Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome is a disease in infants. It mostly affects the eyes and the reproductive system. 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. 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. The condition, however, can be pinpointed to two very specific major symptoms.
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. 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.
The reproductive system is another part affected by the genetic condition if it does not touch the eyes. Premature ovarian failure is what young girls and women with the genetic condition suffer from. Their ovaries may be normally formed but not functional. sometimes, even an ultrasound scan does not detect this condition. They, however, do not have the ability to reproduce unless the condition is rectified.
Having identified the condition and its symptoms, we will now see if there are remedies available. The drooping of eyelids is sometimes left if the eyelid drooping does not prevent vision. For eyelids that impair vision, eyelid surgery is performed. To give the patient a normal life, the eyelids are lifted surgically. The ovarian failure when detected too can be rectified. 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. These rejuvenate the ovaries and the start functioning properly.