X-linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X-linked congenital nystagmus with an affected woman. She was a (46,XX/45,X) mosaic. Magnetic resonance images of the brain of affected individuals were normal.

Original languageEnglish
Pages (from-to)167-169
Number of pages3
JournalAmerican journal of medical genetics
Issue number2
StatePublished - 1991


  • Ullrich-Turner mosaic
  • X-linked eye disease
  • magnetic resonance imaging


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