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Research Article: Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians

Date Published: 2023-07-13

Abstract:
Usher syndrome is an autosomal recessive genetic condition. It is characterized by abnormal development of hair cells resulting in hearing impairment (Figure A), loss of retinal photoreceptor cells resulting in progressive vision loss (retinitis pigmentosa; Figure B), and possible vestibular dysfunction which is also due to hair cell abnormalities. Usher syndrome is thought to affect approximately in individuals globally and is the leading cause of deaf-blindness worldwide. Figure Child with profound sensorineural hearing impairment due to Usher syndrome using a cochlear implant to access sound (A) and image of another adult Usher patient’s retina, showing degeneration from retinitis pigmentosa (B). Image A courtesy of K. Disher-Quill, Image B courtesy of the VENTURE IRD registry, Centre for Eye Research Australia and the University of Melbourne.

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