Early diagnosis of Usher syndrome in children.
OBJECTIVE
To screen severe to profound, preverbal hearing-impaired children for Usher syndrome by ophthalmologic examinations, including electroretinographic testing. These patients are especially good candidates for early cochlear implants, which will improve listening and spoken language skills.


METHODS
Consecutive patients over 2 years of age, given a diagnosis of severe to profound, preverbal hearing loss, were screened for Usher syndrome by a complete ophthalmologic examination including an electroretinogram.


RESULTS
Five of 48 patients screened (10.4%) were diagnosed with Usher syndrome and received cochlear implants.


CONCLUSIONS
All children with severe to profound, preverbal sensorineural hearing loss should be screened for Usher syndrome by ophthalmologic examination including electroretinogram.
Mets
M B
MB
Division of Ophthalmology, Northwestern University Medical School, Chicago, USA.
Young
N M
NM
Pass
A
A
Lasky
J B
JB
D001298:Audiology; D002648:Child; D002675:Child, Preschool; D003054:Cochlear Implants; D004596:Electroretinography; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D006801:Humans; D009885:Ophthalmology / Q000379:methods; D010808:Physical Examination; D012027:Reflex, Vestibulo-Ocular; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D013577:Syndrome; D014786:Vision Disorders / Q000175:diagnosis* / Q000209:etiology