Usher syndrome type 3B

Usher syndrome type 3B is a rare form of Usher syndrome that is caused by a mutation in the HARS gene. The HARS gene provides instructions for making an enzyme that is important for protein production in the body. Changes in this gene can affect the normal function of proteins and lead to the features associated with this condition. Although the specific details of the condition remain under study, the definition indicates that any Usher syndrome resulting from a mutation in the HARS gene falls under the category of type 3B. People with this condition are considered to have a form of Usher syndrome that is defined by its genetic origin. Information about how the condition affects daily life is still being explored.

Information about symptoms is currently limited for this condition.

Usher syndrome type 3B is caused by a mutation in the HARS gene, also known as HARS1. This genetic change alters the normal function of an enzyme important for protein synthesis. The mutation in the gene is the primary cause of the condition, meaning that the change in genetic material is inherited and leads to the development of this form of Usher syndrome.

Information about treatment options and management is currently limited for this condition.

Information about the outlook and quality of life considerations for this condition is currently limited.

Information about current research and future directions is currently limited for this condition.