What is Usher Syndrome Type III?
Genes involved in Type III
Usher syndrome type III is characterized by later onset hearing loss, variable vestibular dysfunction and RP that can be present between the second and fourth decade of life. To date, only mutations in the CLRN1 (USH3A) and HARS (USH3B) genes are known to be causative for this type of Usher syndrome. Identified disease causing mutations in these genes include missense, nonsense, frameshift, splice-site as well as deletions distributed across nearly all exons.