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Early diagnosis of Usher syndrome in infants and children
N M Young1, M B Mets, T C Hain
1Division of Pediatric Otolaryngology, Children's Memorial Medical Center, Chicago, IL 60614, USA.
Insights
The electroretinogram (ERG) can diagnose Usher syndrome in young children with hearing loss before vision problems appear. Early ERG testing enables timely genetic counseling and cochlear implantation for affected children.
Area of Science:
- Ophthalmology
- Genetics
- Audiology
Background:
- Usher syndrome is a leading genetic cause of combined vision and hearing loss.
- Early diagnosis is crucial for effective management and intervention.
- Current diagnostic methods may not detect the condition before significant visual impairment.
Observation:
- Forty-seven children with severe to profound sensorineural hearing loss were evaluated.
- Electroretinogram (ERG) testing was performed to assess retinal function.
- Usher syndrome was diagnosed in five of the evaluated children.
Findings:
- The electroretinogram (ERG) is a noninvasive technique capable of diagnosing Usher syndrome in infants and young children.
- ERG identified Usher syndrome in all five children diagnosed with the condition.
- This diagnostic capability exists prior to the onset of fundoscopic and visual abnormalities.
Implications:
- Early ERG diagnosis facilitates timely genetic counseling and appropriate educational/vocational planning.
- Early detection allows for prompt cochlear implantation in Usher syndrome patients.
- Routine ERG screening is recommended for all infants with bilateral severe to profound sensorineural hearing loss.
Abstract:
The electroretinogram (ERG) is the only test currently available that has the potential to identify patients with Usher syndrome before onset of fundoscopic and visual abnormalities. The ERG is a noninvasive technique that can diagnose retinitis pigmentosa via measurement of corneal-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 cochlear implantation. We have found that accurate diagnosis of Usher syndrome in infants and young children is possible via ERG. Benefits of early diagnosis include timely counseling regarding genetic issues, educational and vocational placement, and cochlear implantation. For this reason we recommend that all newly identified children with bilateral severe to profound sensorineural hearing loss undergo ERG testing.