Semen analysis in the Usher syndrome type 2A

Semen analysis in patients with Usher syndrome suggested that defective con necting cilia axonemes may be involved in the irreversible, progressive los s of photoreceptors in Usher's syndrome. In the framework of clinical genet ic research into Usher syndrome, a pilot study was set up to test these fin dings. The semen of 6 Usher 2A patients was analysed. The fertility status of the study group of Usher 2A patients was evaluated, including semen anal ysis, 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 micr otubular tail abnormalities. The latter finding was of little relevance, ho wever, in view of the normal motility of the spermatozoa observed in these patients. There were no fertility problems in our group of Usher 2A patient s, nor have any been mentioned in Usher patients in general. Earlier study findings were not supported by our data.