Usher Syndrome – What It Is, Symptoms and Treatments


What Usher Syndrome is, Symptoms and Treatments, We Should Not Ignore. In addition, this syndrome was named after the British eye surgeon who first described it in 1914. It is a rare and hereditary disease that causes deafness and gradual vision loss . It can also affect the balance.

Scientists have identified 3 types of Usher syndrome . Babies with this syndrome  are born deaf or hard of hearing . The loss of vision develops during childhood or adolescence.

The different types of Usher syndrome are divided by the degree of hearing and vision loss , the age at which vision loss occurs and how quickly it progresses, and whether balance problems are present. Within the three main types of syndrome, there are individual differences in symptoms and how quickly the condition progresses.

What is Usher Syndrome?

The Usher syndrome is a condition characterized by hearing loss and impaired vision. The retina undergoes degenerative changes and may occur simultaneously with hearing loss.

What Causes Usher Syndrome?

Scientists now know that Usher syndrome is inherited, which means it is passed from parent to child and is caused by changes, called mutations, in genes. Genes are the chemically coded instructions in cells that tell cells what to do. The human body contains 20,000 to 25,000 genes. Each person has two copies of each gene, one from each parent.

This syndrome is an autosomal recessive disease. This means:

Males and females may be affected by the condition.

Both parents carry a mutated gene but do not have their own Usher syndrome .

A baby can get the mutated gene or the normal gene from each parent.

A child who receives a mutated gene from each parent will have Usher syndrome . The chance that a child of two parents with a Usher gene will have the syndrome is 1 in 4.

Different Types of Usher Syndrome:

The Usher syndrome comes in three distinct types that are differentiated by the onset of the disease and its manifestation:

Type 1: Deafness occurs at birth, while visual impairment develops during childhood. Often, this form of the disease is accompanied by vestibular disorders.

Type 2: Usually has a severe hearing impairment which, however, does not worsen throughout the disease. In addition, retinal degeneration is observed during puberty or early adulthood.

Type 3: It is characterized by a gradual hearing loss with late onset of visual impairment.

What are Usher Syndrome Symptoms:

The main symptoms of Usher syndrome are vision and hearing loss . Some people also have balance problems due to inner ear problems.

The progression of PR limits a person’s ability to see in dim or dark light (night blindness). It also causes a person to lose peripheral (lateral) vision slowly over time.

Eventually, any vision left is only in a small tunnel-shaped area. Almost everyone with PR becomes legally blind. There is no known way to predict when and how quickly a person will lose sight.

Symptoms and characteristics of each type include the following:

Usher Syndrome Type I:

Deaf at birth and receive little or no benefit from hearing aids.

Severe balance problems.

Slow to sit without support.

Rarely learns to walk before 18 months of age.

PR begins at the age of 10 with difficulty seeing at night and progresses rapidly to blindness.

Usher Syndrome Type II:

Born with moderate to severe hearing loss, and may benefit from hearing aids

No problems with balance.

PR begins in adolescence.

Usher Syndrome Type III:

Born with normal hearing that worsens in adolescence and leads to deafness through late adulthood.

Born with almost normal balance.

PR begins in early adolescence as night blindness and leads to blindness until mid-adulthood.

How to Treat Usher Syndrome?

There is currently no known cure for Usher syndrome or retinitis pigmentosa. The best treatment involves early diagnosis so that educational programs can begin as quickly as possible, depending on the severity of vision loss and the child’s age and ability.

Treatment may include:

Braille reading instruction.

and learn to use low vision devices and techniques.

Some research has shown that Vitamin A can slow the progression of certain forms of PR. Your ophthalmologist can advise you on the risks and benefits of Vitamin A and how much you can safely take.

Taking too much Vitamin A can be harmful and evidence of the effect of Vitamin A on PR progression is not substantial.

Recently, inherited diseases similar to RP and Usher syndrome have been successfully treated with gene therapy. This is when scientists create a gene in a laboratory. This corrected gene is then inserted into the body. Fortunately, the corrected gene replaces the bad gene that caused the disease. It is likely that such treatment may be available to Usher soon as well.

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