Semen analysis in the Usher syndrome type 2A

A. Van Aarem, M. Wagenaar, E. Tonnaer, S. Pieke Dahl, J. Bisseling, H. Janssen, B. Bastiaans, W. Kimberling, C. Cremers

Research output: Contribution to journalArticle

6 Scopus citations


Semen analysis in patients with Usher syndrome suggested that defective connecting cilia axonemes may be involved in the irreversible, progressive loss of photoreceptors in Usher's syndrome. In the framework of clinical genetic research into Usher syndrome, a pilot study was set up to test these findings. The semen of 6 Usher 2A patients was analysed. The fertility status of the study group of Usher 2A patients was evaluated, including semen analysis, supplemented by electron microscopic examination of the spermatozoa. Except for a significantly increased pH value, no abnormalities were found in the functional semen analysis, whereas electron microscopy revealed microtubular tail abnormalities. The latter finding was of little relevance, however, in view of the normal motility of the spermatozoa observed in these patients. There were no fertility problems in our group of Usher 2A patients, nor have any been mentioned in Usher patients in general. Earlier study findings were not supported by our data.

Original languageEnglish (US)
Pages (from-to)126-130
Number of pages5
Issue number3
Publication statusPublished - May 1 1999



  • Fertility
  • Semen analysis
  • Usher syndrome type 2A

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Van Aarem, A., Wagenaar, M., Tonnaer, E., Pieke Dahl, S., Bisseling, J., Janssen, H., ... Cremers, C. (1999). Semen analysis in the Usher syndrome type 2A. ORL, 61(3), 126-130.