Patients can experience both hearing and vision loss in Usher syndrome. Although it is present from birth, symptoms may not manifest for years. Hearing loss can be complete in some situations, whereas visual loss worsens with time.

What is Usher Syndrome?


Usher syndrome was first described in 1914 by Usher, a British eye surgeon. Usher syndrome is characterized by the abnormal proliferation of hair cells (sound receptor cells) in the inner ear, resulting in deafness or hearing loss. Most children are born with modest to substantial hearing loss, depending on the type of Usher syndrome they have.

Usher syndrome causes hearing loss less frequently throughout adolescence and later in life. Usher syndrome is characterized by a lack of development of the vestibular hair cells, which are sensory cells that detect gravity and head movement.

Sensorineural hearing loss and retinitis pigmentosa are two symptoms of Usher syndrome. Hearing loss produced by injury to the inner workings of the ear is called sensorineural hearing loss. Usher syndrome is a congenital disorder, which means children inherit the disease from their parents and is present from birth.

Retinitis pigmentosa (RP) is a disease that affects the rod cells in the eye’s retina. The retina is the light-sensitive tissue in the back of the eye that is responsible for the initial step of “seeing.” The retina degenerates and loses its capacity to send images to the brain as a result of RP. Early signs of RP include difficulty seeing in the dark, as well as a problem in adjusting to intense light and shifting light conditions. A loss of peripheral vision, commonly known as tunnel vision, is a symptom that develops as the disease progresses.

Usher syndrome is present from birth, although hearing and vision loss severity depends on how the disorder evolves. There are three forms of Usher syndrome.

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Causes Of Usher Syndrome


Usher syndrome is now known to be inherited, meaning it is passed down from parents to children and is caused by alterations in genes known as mutations. Genes are chemically coded instructions that tell cells what they should do. There are 20,000 to 25,000 genes in the human body. Each gene is duplicated in each person, one from each parent.

Usher syndrome is an autosomal recessive condition. It translates to:

  1. The illness can affect both males and females.
  2. Both parents have a defective gene, but neither has Usher syndrome.
  3. Each parent can pass on either the mutant or normal gene to their child.
  4. Usher syndrome is a condition in which a child inherits a defective gene from both parents. A kid born to two parents who both carry the Usher gene has a one-in-four chance of developing Usher syndrome.

Types And Symptoms Of Usher Syndrome


Usher syndrome is divided into three categories. Types 1 and 2 are the most common in the United States. They account for up to 95% of Usher syndrome instances when taken together.

Type 1


Usher syndrome is characterized by substantial hearing loss or deafness at birth, as well as severe balance issues. Many people with severe hearing loss or deafness can opt for a cochlear implant, which is an electronic device that gives individuals with severe hearing loss or deafness a perception of sound.

To select communication alternatives for their kid, parents should visit their child’s doctor and other hearing health specialists as soon as possible. Intervention should begin as quickly as possible when the brain is most open to learning a language, whether spoken or signed.

Type 1 Usher syndrome causes difficulty with balance, which makes it challenging to sit up without assistance. Walking is uncommon before the age of 18 months. Type 1 Usher syndrome causes visual impairments that usually begin before the age of ten, starting with trouble seeing at night and advancing to severe vision loss over several decades.

Type 2


This particular Usher syndrome affects children who are born with moderate to severe hearing loss but average balance. Despite varying degrees of hearing loss, most children with type 2 Usher syndrome can interact verbally and benefit from hearing aids. In persons with type 2 Usher syndrome, RP is frequently discovered in late adolescence.

Type 3


At birth, children with Usher syndrome type 3 have normal hearing. Most people have normal to near-average balance, but some people acquire balance issues as they get older.

The rate of hearing and vision loss varies. Hearing loss is common in adolescents with type 3 Usher syndrome, and hearing aids are required by mid-to-late adulthood.

Adolescence is also when most people develop night blindness. By the late teens or early twenties, blind spots have developed. Legal blindness is common in people in their forties and fifties.

Why Is It Critical To Get A Diagnosis As Soon As Possible?


Children with Usher syndrome need to be diagnosed as soon as possible. While there is no cure for Usher syndrome, there are numerous therapies available. There are therapies for hearing loss, balance problems, and, yes, vision loss. Many of these treatments are most effective when they are started early in life. There is, in short, something that can be done. However, you require a definitive diagnosis as soon as possible for the therapies to begin.


While looking for Usher syndrome symptoms, there are few things you should keep in mind: Hearing loss, vision loss, and balance issues are all signs of Usher syndrome, which is an inherited condition. Unaffected parents pass Usher syndrome on to their offspring. If both parents are carriers with each pregnancy, they have a 1 in 4 chance of conceiving a kid with Usher syndrome.

Usher syndrome is diagnosed using hearing, vision, and balance tests. However, unfortunately, the condition has no known treatment. Early detection of the disease is critical to begin assistance and education initiatives as soon as possible. You can overcome Usher’s challenges and live a whole, connected, and independent life with the proper support.