Usher syndrome type III can mimic other types of Usher syndrome

Ronald J.E. Pennings, August F. Deutman, Randall R. Fields, William J. Kimberling, Patrick L.M. Huygen, Cor W.R.J. Cremers

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

Original languageEnglish (US)
Pages (from-to)525-530
Number of pages6
JournalAnnals of Otology, Rhinology and Laryngology
Volume112
Issue number6
DOIs
StatePublished - Jun 1 2003

Fingerprint

Usher Syndromes
Retinitis Pigmentosa
Hearing
Mutation
Diagnostic Errors
Genes

Keywords

  • Hearing impairment
  • Pigmentary retinopathy
  • Retinitis pigmentosa
  • Retinitis pigmentosa sine pigmento
  • Retinitis punctata albescens
  • Tapetoretinal degeneration
  • USH3
  • Usher syndrome
  • Usher syndrome type III
  • Vestibular impairment

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Pennings, R. J. E., Deutman, A. F., Fields, R. R., Kimberling, W. J., Huygen, P. L. M., & Cremers, C. W. R. J. (2003). Usher syndrome type III can mimic other types of Usher syndrome. Annals of Otology, Rhinology and Laryngology, 112(6), 525-530. https://doi.org/10.1177/000348940311200608

Usher syndrome type III can mimic other types of Usher syndrome. / Pennings, Ronald J.E.; Deutman, August F.; Fields, Randall R.; Kimberling, William J.; Huygen, Patrick L.M.; Cremers, Cor W.R.J.

In: Annals of Otology, Rhinology and Laryngology, Vol. 112, No. 6, 01.06.2003, p. 525-530.

Research output: Contribution to journalArticle

Pennings, RJE, Deutman, AF, Fields, RR, Kimberling, WJ, Huygen, PLM & Cremers, CWRJ 2003, 'Usher syndrome type III can mimic other types of Usher syndrome', Annals of Otology, Rhinology and Laryngology, vol. 112, no. 6, pp. 525-530. https://doi.org/10.1177/000348940311200608
Pennings RJE, Deutman AF, Fields RR, Kimberling WJ, Huygen PLM, Cremers CWRJ. Usher syndrome type III can mimic other types of Usher syndrome. Annals of Otology, Rhinology and Laryngology. 2003 Jun 1;112(6):525-530. https://doi.org/10.1177/000348940311200608
Pennings, Ronald J.E. ; Deutman, August F. ; Fields, Randall R. ; Kimberling, William J. ; Huygen, Patrick L.M. ; Cremers, Cor W.R.J. / Usher syndrome type III can mimic other types of Usher syndrome. In: Annals of Otology, Rhinology and Laryngology. 2003 ; Vol. 112, No. 6. pp. 525-530.
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