Usher Syndrome – Symptoms, Facts, Treatment, Causes

What is Usher Syndrome?

The Usher syndrome is considered as a common genetic condition that alters a person’s sense of hearing and vision. The disease significant presentations are retinitis pigmentosa and a distinct hearing loss. The two significant signs are true presentations of progressive degeneration.

Usher Syndrome Involving the Vision and Hearing of a Person

It has been recorded that the affected are mostly from developed countries, which include the United States. Statistics show that the number of live births affected of Usher syndrome is 4 babies in 100,000.

Symptoms of Usher Syndrome

Generally, the condition is manifested with hearing loss and eye problems. The development of retinitis pigmentosa is observed which is described as night blindness and slow progression of peripheral vision loss. There is also a tendency that the eye problem progresses to tunnel vision, where the central vision is the only part left for the sense of sight.

Retinitis Pigmentosa  as Shown in the Left Picture Compared to the Normal Retina in the Right

The condition is widely known for its three types. The presenting symptoms and characteristics depend on the specific type of the syndrome:

Type I

• The affected are said to be profoundly deaf starting at birth and giving them less control to their balance. It is reported that one cannot attain help from hearing aids.
• Walking independently shall be not be attained before the age of 18 months. This signifies that the child is suffering from a disorder of balance.
• Vision problems are noted at the age of 10. Night blindness is noted.

Type II

• After birth, the child shall acquire a moderate to severe hearing problem but with normal attainment when it comes to balance. The help of hearing aid is present.
• There is slow progression in vision loss. The development of retinitis pigmentosa is not visible until the child reaches his or her teenage years.

Type III

• The child after birth has normal hearing. They tend to have a normal sense of hearing. However, there is a tendency that the patient shall suffer from balance problems. The hearing loss is only possible in teens.
• Night blindness will manifest initially during the time of puberty. Development of blind spots is also prominent in the early adulthood and there is a great possibility that during middle age he or she shall suffer from complete blindness.

Causes of Usher Syndrome

As already mentioned, the condition is said to be influenced by a genetic factor. Usher syndrome is known to be inherited from parents who have the affected gene due to an autosomal recessive trait. This signifies that both parents has the affected gene and unknowingly passes it on to their child. They can also produce a child who is a carrier, just like them.

Genetics

The development of usher syndrome is due to the mutation of a gene that was carried by both parents. It is not necessary that the parents manifest the condition. There is about 1 out of 4 chance that a child will inherit both of the mutated genes. It has been presented that the Type I Usher syndrome has 5 mutated genes known as MY07A, USH1C, CDH23, PCDH15 and SANS. The Type II Usher syndrome has USH2Am VLGR1 and WHRN genes affected. While Type III Usher syndrome has a single affected gene known as USH3A. These genes are made known especially in the process of genetic testing.

Diagnosis of Usher Syndrome

Diagnosis of Usher syndrome is made easy as the main presentation of the disease is hearing and vision problems. The following tests are done in order to diagnose Usher syndrome:

• Vision test. There is a visual field test performed that shall measure the client’s peripheral vision.
• Electroretinogram. This measures the electrical response from light through the eye’s light-sensitive cells. This can also include examination of the other structures of the eyes.
• Electronystagmogram. This can help test the client’s eye movements that are important in checking a person’s overall balance.
• Audiologic examination. This can help measure the ability of the auditory system respond to low sounds.
• Genetic Testing. There are certain genetic tests for each type of syndrome. The test is found to be costly and may take time, but is known to be definite for it can readily identify the genetic makeup that caused the disease.

Treatment of Usher Syndrome

According to reports, there has been no direct treatment of the disease. Management of the disease is attained through the following:

• Provide the client hearing aids as much as the condition can permit. There are cases where hearing aids cannot help. Educating the client with another form of communication is necessary such as the sign language. There are other forms of assistive hearing devices that can help in the process of recuperation.
• Cochlear implants are vital when the hearing problem is not manageable.
• As vision has become straining on the part of the patient, they are supposed to be guided in their adjustment process. When it comes to a point that the patient has attained complete blindness, they are too taught with Braille instruction.
• In cases where visual defect has not been completely affecting the patient, placing them under vitamin A palmitate treatment can slow down visual problems’ progress.