Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches
C Bonnet, A El-Amraoui - Current opinion in neurology, 2012 - journals.lww.com
Current opinion in neurology, 2012•journals.lww.com
Whereas the mechanisms underlying hearing impairment in USH patients are being
unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair
bundle and the functioning of the mechanoelectrical transduction machinery, the
mechanisms underlying the retinal defects are still unclear. Efforts to improve clinical
diagnosis have been successful. Yet, despite some encouraging results, further
development of therapeutic approaches is necessary to ultimately treat this dual sensory …
unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair
bundle and the functioning of the mechanoelectrical transduction machinery, the
mechanisms underlying the retinal defects are still unclear. Efforts to improve clinical
diagnosis have been successful. Yet, despite some encouraging results, further
development of therapeutic approaches is necessary to ultimately treat this dual sensory …
Summary
Whereas the mechanisms underlying hearing impairment in USH patients are being unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair bundle and the functioning of the mechanoelectrical transduction machinery, the mechanisms underlying the retinal defects are still unclear. Efforts to improve clinical diagnosis have been successful. Yet, despite some encouraging results, further development of therapeutic approaches is necessary to ultimately treat this dual sensory defect.
Lippincott Williams & Wilkins