Audiological phenotypic characterization of Usher-syndrome

Introduction:

Usher-syndrome causes about 50% of the combined hearing-/visual impairments. Depending on the type of mutation the syndrome can lead to a mild hearing impairment up to deafness with blindness. The autosomal-recessive disease is associated with damage of the synapses and stereocilia in the inner ear causing a sensorineural-hearing loss as well as a retinopathia pigmentosa resulting from lesions of the photoreceptors.

Methods:

Retrospective analysis of data of patients who were examined at the Comprehensive Hearing Center since 2011. Clinical audiological data as well as genetic investigations were collected. In some patients ophthalmological data were also available.

Results:

Since 2011 Usher-syndrome was detected in four children and one women. Different types of Usher-syndrome showed various severities of hearing loss, all were treated by conventional hearing aids or cochlea implants.

Conclusions:

With a prevalence of 3 – 6/100.000 Usher-syndrome is a pertinent cause of combined hearing-/visual impairment. Because of the fateful course of vision loss, the hearing impairment is an important feature for the detection of Usher-syndrome. Genetic examination offers an early diagnosis and accordingly the chance for coping with the disease. The hearing impairment often remains stable and can be successfully treated with hearing devices. However, the treatment of the retinopathia pigmentosa is still under research.

Publication History

Publication Date:
23 April 2019 (online)