Usher syndrome, type 2 is a subtype of Usher syndrome (See: Usher syndrome) which is characterized by hearing loss at birth and progressive vision loss beginning in adolescence.
The vision loss associated with this condition is caused by Retinitis pigmentosa (RP) (See: Retinitis pigmentosa) but progresses more slowly than in type 1. Hearing loss is present at birth and can range from moderate to severe. Affected children typically benefit from hearing aids and communicate orally. Balance issues found in other types of Usher syndrome are not present in type 2.
Diagnosing Usher syndrome type 2 may require multiple vision and hearing tests. Early detection is critical to the child's development and future communication skills. The earlier that hearing and vision complications are detected, the earlier interventions can begin to improve or maintain abilities. There is no cure for Usher syndrome type 2, but there are treatment options available. Hearing aids, cochlear implants, and other hearing devices may be helpful depending on the severity of the hearing loss. Research is underway to better understand the condition and improve the outcomes for patients.
Usher syndrome type 2 is inherited or passed through families in an autosomal recessive manner. This means that two copies of the changed (mutated) gene are needed to produce the symptoms of Usher syndrome. In recessive conditions, both parents are unaffected carriers. Each child born to two carriers has a 25% chance of being affected. A genetic counselor can be helpful in providing a better understanding of the inheritance and risks to future pregnancies. If your child has been diagnosed with Type 2 Usher syndrome, contact your doctor or genetic counselor to discuss the most current treatment options.