USHER SYNDROME

Overview and Facts

Usher syndrome is also known as Usher-Hallgren syndrome and was discovered by an eye specialist Dr. Carl Usher in 1914. It is a hereditary genetic disorder that manifests with blindness and difficulty in hearing. 

This condition can have either an incomplete or complete loss of hearing or a gradual loss of eyesight. The inability to hear is defined as sensorineural that pertains to defects that can be found in the conduction system of the ear. The loss of sight is owed to the defect in the area that perceives the color (retina). The initial symptom is an inability to see during nighttime, eventually affecting the daytime vision.

Types and Symptoms

TYPES

There are three identified types of Usher syndrome that is dependent upon the type of gene that is affected. 

  • Type I – People with this type is born with a total hearing loss and eventually lose their eyesight within the first ten years of life. It is caused by defects in the nerve that controls the sense of balance. 
  • Type II- Individuals with this type of defect are born with normal hearing. Loss of eyesight does not begin until the ’20s, and some may be normal until the 3rd decade of life.
  • Type III- This type of mutation produces worsening loss of hearing with occasional trouble with their balance. 

SYMPTOMS

  • Difficulty in hearing causing low or unsatisfactory output for children of school age.
  • Impaired eyesight with no apparent cause
  • Inability to see at night
  • Inability to see at the periphery
  • Inability to focus on a specific object

Diagnosis & Medications

DIAGNOSIS

Diagnosis lies in the ability to identify and correlate the different signs and symptoms.  A hearing test is usually done to measure the individuals’ sensitivity to the sound and frequency waves to detect the level of hearing loss. 

Examination of the retina may be done to observe the perception of the light waves. 

The doctor may do an exam to test for the balance of the individual to rule out the presence of an inner ear lesion, which usually occurs in cases of injuries involving the nerves that supply the inner ear.

TREATMENT

  • Deafness is addressed with the use of hearing aids and implants that are embedded in the cone-shaped structure within the inner ear that is responsible for concentrating the sound waves once they reach the inner ear. This procedure, however, is only beneficial for patients whose symptoms were detected early. 
  • The use of alternative ways of communication such as sign language and braille education can help the child with Usher syndrome express thoroughly what they mean and can also make it easy for the caregiver to communicate with them.
  • Supplementation with Vitamin A- Several studies have shown that intake of 15,000 IU can help retard the progress of retinopathy among patients with Usher syndrome.
  • Occupational therapy- teaching the child to do simple activities of daily living with minimal assistance such as dressing, taking a bath, moving around the house, eating and other tasks

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