People who suffer from serious sensory abnormalities can simultaneously have eye pathologies and hearing problems. According to statistical data, 5-6% of such patients suffer Usher's syndrome. This is a dangerous violation, which, unfortunately, does not lend itself to treatment. However, properly selected therapy can slow the progression of the disease.
Usher Syndrome
This term is understood as a rare hereditary disease. This syndrome is characterized by worsening of hearing and development of retinitis pigmentosa. This disorder provokes a progressive deterioration of vision.
Currently, there are several varieties of this pathology, each of which is characterized by certain features of .In any case, if there is a suspicion of Usher's syndrome, you should immediately consult a doctor.
Causes, risk factors
Usher syndrome is formed as a result of a genetic mutation that is transmitted by an autosomal recessive type. To have the symptoms of ailment, the child must obtain the genes of both parents.
There are ten genes that can provoke the appearance of the main components of the disease. These include:
- Sensorineural hearing loss - is a hearing loss associated with damage to the elements of the inner ear, nervous system or auditory nerve.
- Pigmented retinitis - is in the retina dystrophy of the eye, which is provoked by a violation of photoreceptors or pigment epithelium. As a consequence, a person loses sight.
Transmission of the disease is possible if both parents have it. Also, a child can get this ailment if the parents are carriers of the gene. If both partners have this gene, the risk of transmission to their child is 1: 4.
If a person has only one disease gene, he becomes a carrier, but he does not have symptoms himself. Currently, it is not possible to identify carriers.
Symptoms of
Most people with Usher syndrome have a complete hearing loss. In this case, visual disturbances at the initial stages are accompanied by problems with perception in the dark. In adolescence, the so-called night blindness can manifest itself.
As the body grows, lateral peripheral vision deteriorates more and more. Subsequently, it becomes a tunnel. At the same time, central vision often does not suffer. However, the syndrome can develop over the years. After a while, the central vision also deteriorates. However, Usher's syndrome does not provoke the development of total blindness.
How fast a person will lose sight, it is impossible to answer. This process is of an individual nature. That's why the degree of such violations is significantly different. Increasing manifestations of the disease occurs gradually. Thanks to this, a person can prepare for a loss of vision.
Forms of
Researches of scientists have allowed to reveal three basic types of this pathology. Sometimes a fourth type of disease is detected, but it is extremely rare.
So, the main forms of ailment include the following:
- The first type of pathology is accompanied by complete congenital deafness. For such people is also characterized by imbalance. Often, children take their first steps in only 1.5 years. Vision begins to fall about 10 years. In this case, the final formation of night blindness is observed in 20 years. In the presence of this type of disease, there is a risk of progressive reduction in peripheral vision.
- A second type of pathology is characterized by moderate or congenital deafness. If a person has partial deafness, then the hearing does not decrease afterwards. The development of pigment retinitis is observed at the end of adolescence or after 20 years. Chicken blindness begins to manifest in the 29-31 year. With the development of the disease of the second type, vision deteriorates more slowly than in the first case.
- The third type of disease is accompanied by a progressive hearing loss, which usually begins during puberty. Also at this time, pigment retinitis gradually begins to develop. It can cause progressive blindness.
- Symptoms of pathology of the fourth type are more typical for men. In this situation, too, there are growing disturbances and loss of hearing and vision. This form of pathology arises extremely rarely and, as a rule, has an X-chromosome origin.
Diagnosis of
The Usher syndrome is helped by a combination of sudden hearing loss with increasing visual impairment. There are a number of instrumental studies that allow you to make an accurate diagnosis:
- Examination of the fundus - allows you to detect pigmentation spots on the retina. Also during this examination, the doctor reveals the narrowing of the retinal vessels.
- Electroretinogram - makes it possible to detect the first degenerative changes in the ocular retina. With the help of such a procedure, it is possible to identify the extinction of electro-radiographic paths.
- Electronstagmogram - allows to determine involuntary eye movements. They can indicate a disequilibrium.
- Audiometry - provides an opportunity to identify deafness and assess its severity.
The photo shows the changes that occur during the Usher syndrome
Treatment, recommendations
At present, we can not completely get rid of Usher's syndrome. Therefore, the treatment is aimed at slowing the process of reducing vision and compensating for hearing loss. Possible methods of therapy include the following:
- Vitamin A intake Some oculists claim that an increased amount of this substance can slow the development of pigment retinitis. However, this process can not be completely stopped.
- Insertion of electronic devices into the patient's ears. Cochlear implants or hearing aids can be used for this purpose.
Doctors advise adult patients who suffer from common types of pigment retinitis, every day use 15,000 IU of vitamin A in the form of palmitate. You need to do this under the supervision of a specialist. Since people with Usher's syndrome of the first type did not participate in the study, the increased dosage of vitamin A is contraindicated.
At the same time, women planning a pregnancy should refuse to consume large amounts of this substance. You need to do this three months before conception. Otherwise, the threat of congenital anomalies in a child is significantly increased. Pregnant women also need to give up a high dosage of this substance.
A child with such a diagnosis must necessarily adapt to life in society. This requires the help of psychologists and defectologists. In some cases it is necessary to teach the child the language of gestures.
Unfortunately, Usher's syndrome is characterized by an unfavorable prognosis. The acuity and field of vision are lost in 20-30 years. In some cases, there is a risk of complete bilateral loss of vision. Deafness is accompanied by dumbness and quickly develops to complete loss of hearing.
How to adapt to life with Usher Syndrome:
Usher Syndrome is a very serious disease that can not be completely cured. To slow the progression of the disease, it is very important to consult a doctor in time. Specialist will conduct diagnostics and give recommendations on improving the quality of life.