Usher Syndrome

Usher Syndrome is a genetic disorder which is rare and affects hearing, vision as well as the balance. Syndrome means there are more than one symptom of the disease or disorder. It is a leading cause for deafblindness and is known by other names as well, Usher-

Hallgren, Hallgren syndrome, dystrophia retinae and retinitis pigmentosa-dysacusis syndrome. The hearing loss is associated with the defective inner ear.

The vision loss is associated with retinitis pigmentosa or RP. A visual field test is conducted to measure the peripheral vision of the person. Children suffering from this disease tend to walk slowly as a kid and after some time, their vestibular system is also affected. There are usually 3 types of usher syndromes. Type 1 , 2 and three. Type 1 and 2 are most common and most cases are of type and 2 which is observed in children.

Usher Syndrome 1: In the type 1 case, children are deaf at birth and hearing aids are of little or no use at all to them. Balance problems are also experienced by the child in type 1. They are not able to walk properly and sit taking time. Vision issues erupt during early childhood and the child faces problem in seeing during the night which gradually turns in blindness after some time.

Usher Syndrome 2: In type 2 syndrome moderate to severe loss of hearing is observed but the balance of the body is proper. The hearing loss severity may vary from child to child but they are able to communicate to some extent and hearing aids are also helpful in type 2. The loss of vision slowly progresses in type 2 and till the teens it may be lost completely.

Usher Syndrome 3:  In type 3 , the child may not be affected in early childhood but later with time, a significant hearing and visual loss is observed in early or mid adulthood. From mid age to adulthood the hearing aids can be beneficial and in the late teens blind spots may develop in children which by mid adulthood worsens turning the person completely blind.

Causes

The usher syndrome is inherited as an autosomal recessive trait from parents. It is in the genes. The genes are in cells and each parent have different genes which are developed in children but in certain cases, the genes are mutated and altered, thus acting differently.

Signs and Symptoms

The type 1 patients are found to be deaf from birth and they suffer from balance issues as well. Hearing aids are not useful to them. The type 2 patients are found to suffer from moderate to severe hearing loss who have benefited to some extent with the help of hearing aids. In type 3 there is progressive loss of hearing and sight when the child becomes a teenager. Nightblindness also develops in teens. During puberty, night blindness is noticed in the children.

Diagnosis

Usher syndrome affects the balance, hearing and seeing capability in a person which the diagnosis is done by simply evaluating the three senses properly. To measure the peripheral vision of a person, a simple visual field test is conducted to evaluate the eyes. ERGH is also performed for measuring the light sensitive cells existing in the eyes. A retinal examination is also conducted for observing the retina and other characteristics of the eye. An audoilogic evaluation is also conducted to check the person’s capability of listening to different frequencies. If the usher syndrome diagnosis is done earlier then it will be better for the parents to help children take education and training to deal with the syndrome effectively.

Prognosis

Children suffering from type 1 are not benefitted with hearing aids until the cochlear implant is done. Type 2 patients can get help with hearing aids and communicate with lip reading and hearing to a certain level. The type 3 patients require hearing aids from middle to late adulthood. Visual prognosis is a vital step while counseling the patient and hearing and vision loss is assured.

Tests

The genetic tests are conducted to confirm the syndrome but not conducted on a large scale. There are some nine genes which points out this syndrome and usually to confirm the disease only hearing, balance or vision tests are conducted.

Treatment

Presently there is no cure for usher syndrome. The diagnosis should be done early for beginning the educational programs which can help children to cope up with hearing and seeing stress. The treatment will include hearing aids, understanding of sign language, listening devices which can assist and cochlear implantation. It is also told by the doctors to lower down the progress of usher syndrome, a high dose of vitamin A palmitate should be considered.

Prevention

To lower the progress of the syndrome, never substitute the vitamin A palmitate with a beta-carotene supplement and the Vitamin A supplements should not be taken more than recommended. Pregnant women cannot take high dose of vitamin A because of the birth defects.