Usher syndrome type III (USH3): The clinical manifestations in 42 patients

Abstract

Clinical manifestations of 42 patients with Usher syndrome type III (USH3) were analysed. USH3 differs from the other Usher syndrome types by progression of the hearing loss. Impaired hearing was diagnosed after the child learned to speak at childhood. Hearing deteriorated to severe or profound hearing loss during 5 to 30 years. Out of 42 patients 40 used hearing aids and 2 patients with profound hearing loss did not benefit from them. All but one patient communicated with speech or with a combined speech/signing method. The vestibular function was decreased in 8 out of 17 patients. USH3 appears to form a clinically and genetically distinct entity. However, if the hearing loss starts very early or if its progression is slow, USH3 may be difficult to differentiate from USH1 or USH2.

Key Words:

• Usher Syndromes
• Usher Syndrome Type III
• progressive hearing loss
• retinitis pigmentosa
• progressive pigmentary retinopathy
• deaf-blindness
• hereditary hearing loss.