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Early diagnosis of Usher syndrome in infants and children.
Am J Otol. 1996 Jan; 17(1):30-4.AJ

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.

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Authors+Show Affiliations

Young NM
Division of Pediatric Otolaryngology, Children's Memorial Medical Center, Chicago, IL 60614, USA.
Mets MB
No affiliation info available
Hain TC
No affiliation info available

MeSH

ChildChild, PreschoolCochleaCochlear ImplantsElectroretinographyFemaleHearing Loss, SensorineuralHumansInfantMaleRetinitis PigmentosaSyndromeVestibular Function TestsVision Disorders

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8694131

Citation

Young, N M., et al. "Early Diagnosis of Usher Syndrome in Infants and Children." The American Journal of Otology, vol. 17, no. 1, 1996, pp. 30-4.
Young NM, Mets MB, Hain TC. Early diagnosis of Usher syndrome in infants and children. Am J Otol. 1996;17(1):30-4.
Young, N. M., Mets, M. B., & Hain, T. C. (1996). Early diagnosis of Usher syndrome in infants and children. The American Journal of Otology, 17(1), 30-4.
Young NM, Mets MB, Hain TC. Early Diagnosis of Usher Syndrome in Infants and Children. Am J Otol. 1996;17(1):30-4. PubMed PMID: 8694131.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Early diagnosis of Usher syndrome in infants and children. AU - Young,N M, AU - Mets,M B, AU - Hain,T C, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 30 EP - 4 JF - The American journal of otology JO - Am J Otol VL - 17 IS - 1 N2 - 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. SN - 0192-9763 UR - https://www.unboundmedicine.com/medline/citation/8694131/Early_diagnosis_of_Usher_syndrome_in_infants_and_children_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8694131.ui DB - PRIME DP - Unbound Medicine ER -