Sperm abnormalities in retinitis pigmentosa

William E. Connor, Richard G. Weleber, Carol DeFrancesco, Don S. Lin, Don P. Wolf

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Purpose. To determine the fatty acid composition of erythrocytes and sperm, along with the functional characteristics of sperm; in patients with retinitis pigmentosa. Sperm and retinal cells share important homologies. Both are rich in the highly polyunsaturated fatty acid, docosahexaenoic acid (DHA, 22:6[n-3]), and both contain a structural component called the axoneme. Low concentrations of DHA in the retina of monkeys are known to cause visual impairment. Because blood levels of DHA in retinitis pigmentosa patients are less than normal, reduced DHA in the retina might contribute to the visual impairment characteristic of this disease. This study was conducted on the hypothesis that the sperm of retinitis pigmentosa patients might be abnormal and that these abnormalities might infer similar lipid and structural abnormalities of the retinal. Methods. The lipid composition of erythrocytes and sperm (fatty acids and sterols) and sperm function were analyzed in 26 patients with retinitis pigmentosa and in 8 healthy men. Results. The sperm of patients with retinitis pigmentosa had a much lower DHA concentration, a lower desmosterol-to-cholesterol ratio, reduced motility, abnormal structure, and lower sperm counts compared with that in normal subjects. Usher's II patients exhibited the most pronounced reductions of DHA in sperm. Sperm DHA concentration was positively correlated to sperm motility, to sperm count, and to the desmosterol-to-cholesterol ratio. Lower erythrocyte DHA was also observed in retinitis pigmentosa patients. Conclusions. These results indicate that the sperm of patients with retinitis pigmentosa, particularly those with Usher's II, have an abnormal lipid composition that is associated with reduced motility. The possibility exists that these patients might have similar abnormalities in the DHA biochemistry of the retina. Sperm biochemistry and function may be a marker for this disease. A clinical trial of DHA in retinitis pigmentosa is suggested for future study.

Original languageEnglish (US)
Pages (from-to)2619-2628
Number of pages10
JournalInvestigative Ophthalmology and Visual Science
Issue number12
StatePublished - Nov 1997
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience


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