What is Usher Syndrome?

Usher Syndrome is a rare hereditary disorder that causes deafness and progressive vision loss. The vision loss is due to retinitis pigmentosa, a breakdown and loss of cells in the retina. There are three types of Usher syndrome. These categories are based on the severity of hearing and vision loss, the age when the vision starts to diminish, how quickly the vision loss develops, and whether balance is affected.

 What causes Usher Syndrome?

Usher Syndrome is genetically inherited from parent to offspring, due to a mutation in the genes. A copy of the mutated gene from each parent is necessary for the child to be affected. A person with only one copy of the gene is a “carrier” and rarely has any symptoms.

Usher syndrome is an autosomal recessive disorder, meaning two copies of an abnormal gene must be present for the disease or trait to develop. Males and females can both be affected by the condition. Also, both parents carry a mutated gene, but do not have Usher syndrome themselves. A child who gets a mutated gene from each parent will have Usher syndrome. The chance that a child from two parents who each have an Usher gene will have Usher syndrome is 1 in 4.

Usher syndrome is the cause of 18% of the population that has retinitis pigmentosa. Researchers estimate that as many as 25,000 people in the U.S. have Usher syndrome. Worldwide, it is the leading cause of combined deafness and blindness.

What are the Different Types of Usher Syndrome?

In the United States, type 1 and 2 of Usher Syndrome are the most prevalent making up 95% of all cases.

Type 1:

  • Babies are almost completely deaf at birth
  • Children have a severe complication with balance
  • Babies begin walking at a late age
  • Problems with vision develop in early childhood
  • The progression to total blindness is rapid

 Type 2:

  • Babies are born with moderate to severe hearing loss
  • Balance is not affected in children
  • Night vision problems arise as teenagers
  • The loss of vision progresses slowly
  • The loss of vision does not result in total blindness

 Type 3:

  • Babies are born with normal hearing at birth
  • Children may have problems with balance later in life
  • The loss of hearing and vision is gradual
  • The loss of hearing occurs in teens
  • In puberty night blindness occurs
  • In young adults blind spots begin to occur
  • By middle age total blindness begins to occur

What causes Vision Loss in Usher Syndrome?

The back of our eye is lined with light sensitive tissue, called the retina. Light rays are converted in the retina to impulses that travel to the brain where they are seen as images. In Usher syndrome, the cones and rods that are the retina’s light-sensing cells are affected. This condition is called retinitis pigmentosa, the rods start to die causing night blindness and loss of peripheral vision. The loss of rods leads to the loss of cones, leading to a loss of central vision.

How is Usher Syndrome Diagnosed?

A diagnosis of Usher Syndrome is based on vision, hearing, and balance tests. Also, a test for the usher gene can be performed to confirm the diagnoses.

Hearing test

  • In the United States an infant’s hearing is tested at birth.
  • If the newborn does not pass the hearing test, further tests are carried out to evaluate for hearing loss.
  • Hearing tests on older patients are done with an audiology evaluation, measuring how loud a sound need to be before it is heard.

Vision test

  • A physical examination is conducted of the retina.
  • A visual field test is done, measuring the peripheral vision.
  • An electroretinogram is done, testing the retina’s response to light.
  • A balance test is conducted.
  • An electronystagmogram that measures involuntary eye movement that can detect balance problems is performed.

What are the Treatments for Usher Syndrome?

Currently, there is no cure for usher syndrome. The treatment is focused on adapting the child to their vision and hearing loss, so they can enjoy a normal life as much as possible.

The options for treatment include:

  • NuEyes smartglasses
  • Hearing aids
  • American Sign language
  • Cochlear implants
  • Assistive listening devices
  • Orientation and mobility training

Vitamin A

It is believed by some ophthalmologists that a high dose of vitamin A may slow down the progression of retinitis pigmentosa. This treatment method should be consulted with a health care provider.

Usher Syndrome and NuEyes

  1. What can you see?

NuEyes Smartglasses takes what the user is looking at and puts it directly in front of their eyes. This allows the user to fully see their surroundings. Also, it is possible to adjust the brightness, contrast, and color of what the user sees. Due to magnification from 1x-12x in Nueyes ODG Smartglasses it is possible for users to control the Smartglasses based on their needs.

  • Puts images directly in front of eyes
  • Able to fully see surroundings
  • Adjust brightness, contrast, and color of image
  • 1x-12x magnification
  • Control based on needs
  1. What freedom do they Allow?

A hands-free device allows use of both hands while the low vision glasses enable vision. The head-worn display for low vision is voice activated, has an adjustable HD camera, wireless battery powered, and can browse the web, emails, and social media. Michael A. Samuel, a retina specialist, says, “A device like this allows them to take this technology outside of the home to places they want to go. It expands their ability to live their life a little bit more than they did before.” This wearable technology is the future for patients with low vision, allowing them the ability to see in stores, restaurants, and anywhere they wish to go.

  • A hands-free device allowing freedom and sight
  • A head-worn display that is voice activated
  • An Adjustable HD camera
  • Wireless and battery powered
  • Browse the web, emails, and social media
  • Ability to see in stores, restaurants, and etc.
  1. What are the Details?

An HD digital camera mounted on the center bridge of the frames streams images to built-in 3D stereoscopic HD display lenses. An LED light helps to see in dark environments. A touch interface on the temples of the smartglasses provides haptic feedback, a vibration when touched to alert that it’s been pressed. The NuEyes ODG smartglasses are auto focus with high definition optics, other features include Bluetooth, Wi-Fi, and a GPS sensor. Magnification is available up to 12x, allowing sight of people or objects in close detail. A sensor within the NuEyes ODG smartglasses reads the barometric pressure and humidity in the user’s environment.

  • An LED light for dark environments
  • A touch interface with haptic feedback
  • Autofocusing high definition optics
  • Bluetooth, Wi-Fi, and GPS sensor
  • Magnification up to 12x
  • Barometric pressure and humidity sensors