What Your Test Results Mean:

Carriers are not expected to show symptoms. You and your partner would both have to be carriers of Usher syndrome type ID/CDH23-related disorders for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

Usher syndrome type ID/CDH23-related disorders is a group of inherited disorders characterized by mild-to-severe hearing loss and vision loss that worsens over time. The hearing loss is usually present at birth, and vision loss begins in childhood and progressively worsens over time. The cause of hearing loss for these individuals is inner ear abnormalities. The inner ear is what also helps maintain the body’s balance and orientation in space. Therefore, individuals with Usher syndrome type ID/CDH23-related disorders can also have problems with balance and delayed motor milestones as a result. Many individuals do not develop speech and benefit from learning alternative forms of communication, such as sign language.

Prognosis

Individuals can have severe hearing and vision impairment. The condition does not affect a person’s life expectancy or intelligence.

Treatment

Treatment is mostly supportive, as there is no cure. Optimizing communication at an early age is important. Hearing aids are usually not effective, and some individuals opt for cochlear implantation. Routine eye exams are recommended.