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Usher’s Syndrome Types, Symptoms, and Natural Treatment Options

Usher syndrome is the most common hereditary disorder. A syndrome is a group of symptoms that occur together. In the case of Usher syndrome, it affects both hearing and vision; in some cases, it can also cause balance problems.

How common is Usher syndrome? Usher syndrome is rare, affecting approximately 3 to 10 in 100,000 people. In the USA, about 4 babies in every 100,000 born have Usher syndrome. It accounts for about 50% of all inherited deaf-blindness cases.

This syndrome is characterized by gradual visual impairment and partial or total hearing loss. The vision loss comes from retinitis pigmentosa (RP), while the hearing loss results from a defective inner ear.

The symptoms of RP may begin anywhere from early childhood to adolescence, but hearing and balance problems usually occur at birth.

There is no cure for the Usher syndrome. Still, acupuncture can help in vision restoring and slowing the progression of the symptoms. This post will clear any doubts about alternative treatments for Usher syndrome, including Micro Acupuncture 48, Chinese Herbal Therapy, and Nutritional Therapy.

Treating Usher Syndrome at Makari Wellness in San Diego, CA

When traditional medicine has nothing more to offer, Makari Wellness has.

Practicing TCM (Traditional Chinese Medicine) for more than 15 years, we are experts in making treatments unique and effective for every individual case. Our goal is to improve your quality of life with the most quality protocol TCM has to offer. It includes Acupuncture, Chinese Herbal Medicine, Lifestyle and Nutritional Counselling, and the special gold standard in Ophthalmic Acupuncture – Micro Acupuncture 48.

Makari Wellness

Do not hesitate to contact us and inform yourself of the latest Usher syndrome treatments at (888) 871-8889, operating in Oceanside, CA and San Diego, CA locations.

What is Usher Syndrome?

It is a rare, incurable genetic condition involving sensorineural hearing loss and retinitis pigmentosa (RP). The underlying genetic cause determines the age at which the symptoms appear and their severity. There are 3 types of Usher syndrome, depending on the severity of the symptoms.

  • Deafness is caused by abnormal development of the inner ear hair cells in the cochlea, which are the sensory receptors of both the auditory and vestibular (balance) systems. The gene mutation affects the nerve cells in the cochlea, so they do not transmit sounds normally.
  • Vestibular (balance) function is also affected, so children with the Usher syndrome have difficulties maintaining the body’s balance and orientation in space.
  • Retinitis pigmentosa (RP) is a disease that affects the retina, which is a thin piece of tissue lining the back of the eye. Con and rod receptors in the retina convert light into electrical signals interpreted in the brain as vision.
symptoms of usher syndrome

RP leads to the abnormal accumulation of colored (pigmented) material on the retina. When examining the retina, the optic nerve looks pale, the blood vessels supplying the retina are very thin, and characteristic spots and splotches of pigment (called bone spicules) are detected.

In most forms of RP, rods are affected first. Then, their degeneration affects night and peripheral vision. In other cases, people with cone degeneration may experience loss of central vision, reduced ability to differentiate colors and see in detail. In addition, vision becomes more constricted over time. me types are divided into 3 groups, depending on the mutated gene and the severity of the symptoms.

Usher Syndrome Symptoms

Symptoms of Usher syndrome include eye, ear, and balance problems. Deafness occurs due to the impaired ability of the ear and auditory nerves to transmit sound input to the brain. Sensorineural deafness may be profound or mild and can also be progressive.

Retinitis pigmentosa affects the light-sensitive cells (cones and rods) in the retina. The most common symptoms include:

  • Blurred vision
  • Reduced night vision
  • Difficulties distinguishing colors
  • Reduces side vision (so-called tunnel vision)
  • Photophobia

The rate of progression of Usher syndrome varies from person to person. Usher syndrome types are divided into 3 groups, depending on the mutated gene and the severity of the symptoms.

Usher syndrome type Type 1 Type 2 Type 3
Hearing Deafness at birth Moderate to severe hearing loss Progressive hearing loss
Vision Nigh blindness onset in the 1st decade of life, progressing to severe vision loss. Decreased night vision by adolescence, progressing to severe vision loss Night vision decreases by adolescence progress to severe vision loss later in life
Balance Balance problems present Normal balance Normal to near-normal balance

Usher Syndrome Type 1

Babies born with Usher syndrome type 1 are profoundly deaf and lose sight in the 1st decade of life. In addition, there are developmental delays in sitting and walking due to problems in maintaining balance. As a result, walking rarely occurs before 18 months of life.

Vision problems occur before the age of 10, with children having difficulties seeing at night and further progressing to severe vision loss over several decades. In addition, cataracts developing is a common complication.

With these children, hearing aids are generally ineffective. They often need to learn sign language in order to communicate.

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Usher Syndrome Type 2

The hearing loss associated with Type 2 of Usher syndrome is mild to severe, usually affecting hearing high-frequency sounds. These sounds are found in soft speech sounds like d and t. The degree of hearing loss varies in different families and may become severe over time. This type of Usher syndrome is not associated with balance problems.

Visual difficulties may occur in the teen years and progress throughout life; visual impairment tends to progress more slowly than that associated with Type 1. However, most people with Usher syndrome will retain a good central vision for most of their lives.

Usher Syndrome Type 3

It is the rarest of all types, with normal hearing at birth. Hearing loss begins during late childhood or early adolescence; it progresses to profound hearing loss.

This type is characterized by the later onset of visual difficulties, too. RP can present between the 2nd and 4th decade of life. Balance issues are variable and occur in approximately 50% of individuals with Type 3.

This clinical type is common in Finland but very rare in the USA.

Usher Syndrome Causes

Usher disease is a hereditary syndrome, which means that parents pass it to their children. The syndrome is inherited in an autosomal recessive inheritance pattern. Autosomal means that the gene is located on non-sex chromosomes. The disorder is usually passed on by 2 unaffected carriers who do not show signs and symptoms of the condition.

The child inherits 2 mutated genes, one from each parent. The parents have:

  • 25% chance of having an unaffected child with 2 normal genes – unaffected child
  • 50% chance of having an unaffected child who is also a carrier (with one mutated, recessive gene and one normal, dominant gene) – unaffected child carrier
  • 25% chance of having an affected child with 2 recessive, mutated genes – affected child

The mutated genes associated with the Usher syndrome fail to provide proper instructions for making proteins involved in normal hearing, vision, and balance. In the inner ear, these proteins are responsible for the appropriate development and function of the specialized cells which transmit sound from ear to brain (hair cells). In the eye, these proteins are involved in the proper maintenance of cone and rod cells, special light-sensitive cells.

A mutation in specific genes causes usher syndrome. Parents who are close relatives have a higher chance than unrelated parents to have children with a recessive genetic disorder. The disease has been associated with the mutation in at least 10 genes:

  1. Type 1: MYO7A (USH1B), USH1C, CDH23, PCDH15 (USH1F), SANS (USH1G), and possibly CIB2
  2. Type 2: USH2A, ADGRV1, WHRN (DFNB31)
  3. Type 3: USH3A (CLRN1), HARS
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Usher Syndrome Diagnosis

Early diagnosis is crucial for children with Usher syndrome because most treatments beginning early in life are more successful. The diagnosis includes hearing, vision, and balance testing.

  • An audiology (hearing) exam will determine the frequency and loudness of the sounds that a child can hear.
  • Electroretinography (ERG) measures how well the retina reacts to light, used for RP diagnosis.
  • Electronystagmography (ENG) is a test that checks involuntary eye movement to help diagnose balance problems.
  • Genetic testing can differentiate the type of Usher disease.

Early diagnosis is crucial and a good thing for a family because they need to choose a communication method, deal with some safety concerns, decide on extending the family, and become a part of the educational support planning, which means the Individualized Education Plan (IEP).

Usher Syndrome Treatment

There is no cure for the Usher syndrome yet. However, there are many treatments, but all of them include managing balance, hearing, and vision difficulties.

The treatment may involve the coordinated efforts of a medical specialist team, such as pediatricians, internists, otolaryngologists, ophthalmologists, and audiologists, and other health care professionals.

It may include different treatments and therapies:

  • Cochlear implants bypass the damaged hair cells and send electric signals to the brain, where they are interpreted as sound.
  • Hearing aids
  • Low vision support
  • Hearing (auditory) training
  • Speech, physical and occupational therapy
  • American Sign Language
  • Assistive listening devices
  • Orientation and mobility training
  • Braille instruction
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TCM for Usher Syndrome

Acupuncture treatments will primarily address the retinitis pigmentosa, helping in vision improvement and slowing down the progression of the disease.

Acupuncture is a procedure in which thin needles are inserted into the patient’s skin. The skin is penetrated at specific points called acupuncture points. According to TCM, acupuncture involves its effect on improving the flow of Qi (or Chee), vital energy within the body.

The main goal is to restore the Qi’s balance and support the body’s own healing system. In addition to severe chronic eye conditions, it can boost overall visual acuity, reduce the sensitivity to light, and eliminate blurred vision.

Acupuncture focuses on the primary acupoints located around the eyes, like:

  • Jingming
  • Zanzhu
  • Yuyao
  • Sizhukong
  • Tongzilia

Each of these acupoints brings Qi and blood to the eyes and help to nourish the eyes by removing the toxic waste build-up as a byproduct of metabolism. In the case of the Usher syndrome and retinitis pigmentosa, it is an entirely safe and effective treatment.

The research conducted at the American University showed that 61% of 12 patients noticed a significant improvement in dark adaptation, night vision, and visual acuity.

Acupuncture may be combined with Chinese Herbs for the best results. A Chinese herbalist may prepare a unique blend of different herbs with various properties to treat your condition. The benefit of herbal therapy is that it does not focus only on the condition but also on strengthening the overall immune system.

Some common herbs used in treating Usher disease are in the form of pills, teas, extracts, powders, and include:

  • Wolfberry
  • Buddleia flower buds
  • Celosia seeds
  • Eyebright
  • Gingko Biloba
  • Pagoda tree flower
  • Green tea
  • Chrysanthemum flower