EARLY DIAGNOSIS OF USHER SYNDROME IN INFANTS AND CHILDREN

The electroretinogram (ERG) is the only test currently available that has the potential to identify patients with Usher syndrome before onse t of fundoscopic and visual abnormalities. The ERG is a noninvasive te chnique that can diagnose retinitis pigmentosa via measurement of corn eal-retinal potentials. Forty-seven children with bilateral severe to profound sensorineural hearing loss were evaluated. Usher syndrome was diagnosed in five children, all of whom subsequently underwent cochle ar implantation. We have found that accurate diagnosis of Usher syndro me in infants and young children is possible via ERG. Benefits of earl y diagnosis include timely counseling regarding genetic issues, educat ional and vocational placement, and cochlear implantation. For this re ason we recommend that all newly identified children with bilateral se vere to profound sensorineural hearing loss undergo ERG testing.