PEDIATRICS Vol. 62 No. 4 October 1978, pp. 578-583
This Article
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Davenport, S. L. H.
Right arrow Articles by Wilkus, R. J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Davenport, S. L. H.
Right arrow Articles by Wilkus, R. J.

Usher Syndrome in Four Hard-of-hearing Siblings

Sandra L. H. Davenport M.D., C.M.1, Sinead O'Nuallain M.B., B.S.1, Gilbert S. Omenn M.D., Ph.D.1, and Robert J. Wilkus M.D.1

1 Departments of Pediatrics, Medicine (Division of Medical Genetics), and Laboratory Medicine (Division of Electroencephalography), University of Washington, Seattle

Retinitis pigmentosa (RP) and congenital deafness comprise the autosomal recessive Usher syndrome. The four affected siblings discussed here have audiometric curves characteristic of the 10% of patients with the syndrome who are not profoundly deaf. The oldest already has RP. Even though the younger three siblings have no visual symptoms, they do have auditory signs of the syndrome; they almost certainly will develop RP and become deaf-blind adults. Electroretinography indicates that the second oldest boy has early evidence of rod dysfunction. Special audiometric tests and electronystagmographic results support previous reports of a peripheral rather than central auditory lesion. The heterozygote parents show unilateral high-frequency hearing losses with normal retinal and vestibular function.

Submitted on April 22, 1977
Accepted on March 21, 1978




This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
A Iannaccone, D K Breuer, X F Wang, S F Kuo, E M Normando, E Filippova, A Baldi, S Hiriyanna, C B MacDonald, F Baldi, et al.
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
J. Med. Genet., November 1, 2003; 40(11): e118 - 118.
[Full Text] [PDF]

Home page
 Arch Otolaryngol Head Neck SurgHome page
A. van Aarem, C. W. R. J. Cremers, and M. J. L. Benraad-van Rens
Usher Syndrome: A Temporal Bone Report
Arch Otolaryngol Head Neck Surg, August 1, 1995; 121(8): 916 - 921.
[Abstract] [PDF]

Home page
 CLIN PEDIATRHome page
A. Cantani, P. Bellioni, G. Bamonte, F. Salvinelli, and M. T. Bamonte
Seven Hereditary Syndromes with Pigmentary Retinopathy: A Review and Differential Diagnosis
Clinical Pediatrics, October 1, 1985; 24(10): 578 - 583.
[Abstract] [PDF]