Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

What is Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome?

The Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, also referred to as BPES, is a condition where the development of the eyelids is affected. Some really important facial features in this condition are the eyes being too narrow, the eyelids may look too droopy and the inner lower eyelid will have an upward fold. The eyes will also be widely set. As a result of this condition, the patient might have to face difficulty in opening the eyes and also a problem with vision. The Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome can have two subdivisions: Subdivision I and II. In the case of subdivision I, the female patients might have to face a premature ovarian insufficiency along with the other problems of the eyes and malformation of the facial features. In subdivision II, it is just the eyes and the facial features that happen to be affected.

Symptoms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

The major symptoms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome are the visionary problems and malformation of the eyes that can be seen to suspect the condition. Both types of BPES can be ascertained with the four major deformities of the eyes. Apart from this, in the case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Type I where there is a premature ovarian functioning and insufficiency, the patients might have to face irregular period or menstrual cycles. The process can stop completely by the time the patient reaches the age of 40.(1) This is a problem that can pose a major fertility issue for the female. There can also be other symptoms of the condition where the child might have to sport a lazy eye, or a cross-eyed vision. The ears could also be low set, a short distance between the nose and the upper lip. The nasal bridge could also be larger than it should be otherwise.

Causes of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome is a genetic disorder that is known to happen due to the FOXL2 genes in humans. This gene manages and controls the making of the FOXL2 protein that is required for the proper development of the muscles around the area of the eyelids.(1) This is also the protein that is required for the making of the cells of the ovary. Mutation of this gene can cause this condition. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome is an autosomal genetic disorder. This means that if the child inherits an affected or mutated gene from even any one of its parents, the child can present the condition. BPES is one such syndrome where a mutated gene from either of the parents can cause the situation in the child.(2) Again the child can get the condition from a potentially mutated gene which might have been dormant in the parent but has become active in the child. Hence children with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome might not always have affected parents. In certain situation, it has also been seen that the FOXL2 gene did mutate in the child after it was delivered by the parent.

Each affected parent poses a fifty percent risk of transferring the affected gene to their child every time there is a pregnancy. The risk happens to be equal for both the male and the female infants. In certain cases, it has been seen that the condition emerges due to a sporadic mutation of the gene right within the cell of the sperm or the ovary. This is a condition where inheritance from parents is not the issue. Patients who are identified with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome do not belong to any particular sex, ethnic or cultural race or any nationality in particular. The research studies are mainly done by studying the cases and the patients that have been reported.

However, being a genetic disorder this is one of the realms that are open to new and improved discussions and researches. The scientist and the medical fraternity are trying their best so that they can get to know everything about Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, the exact reasons for its cause and the reasons for the gene mutation. This is one of the findings that will help in understanding the condition and also treat the Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome patients in a more effective manner in the future.

Diagnosis of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

The main diagnosis of the condition is done on findings that are much apparent at the time of birth. Out of these symptoms, the four most important symptoms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome happen to be those of narrow eyes, droopy eyelids, the skin of the lower eyelids happens to be turned in. Lastly, the eyes are set wide away. These malformations of the eyes have a definite effect on the appearance of the face as well. Diagnosis is done to find out whether it is type I or type II Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome. If it is type I then ovarian malformations are also found which is absent in the case of type II Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome.(1)

This test to ascertain the type I or II Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome is done mostly on the female patients since the element of ovarian problems can exist only in female patients. In the case of type I, there also exists a problem and an imbalance of hormones in the affected individual.

Treatment of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Talking of the treatment of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, both the aspects of eyelid malformation and that of ovarian problem needs to be addressed. Two stages of treatment are required for Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome and they can also be done in a simultaneous manner. These treatments can be commenced between the ages of two and five. The timing of the surgery and the rest of the treatment happens to be crucial as that can affect the quality of vision of the patient. In case of managing the ovarian insufficiency, a hormone replacement therapy can be done. In certain cases, donation of the ovary can also be tried(5). However, even then conceiving can remain to be a problem for the patient.

Conclusion

Even after the treatment of the ovary, the patient suffering from Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome might have to try another form through which she can attain parenthood such as adoption or even foster parents, as fertility can still remain to be a challenge for her. Considerable improvement in the health of the patient can be expected in the times to come with the right type of treatment provided. Here, we see that often considerable alterations are also done in terms of the looks of the patient. However, a completely unaffected look of the person might not be altogether possible. Fertility in many cases happens to be an issue. Improved researches are being done in this domain so that further improvement and enhancements can be done.

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