Eye symptoms in relatives of patients with primary adult-onset dystonia

Giovanni Defazio, Giovanni Abbruzzese, Maria Stella Aniello, Roberta Di Fede, Marcello Esposito, Giovanni Fabbrini, Paolo Girlanda, Rocco Liguori, Lucio Marinelli, Davide Martino, Francesca Morgante, Lucio Santoro, Michele Tinazzi, Alfredo Berardelli

Research output: Contribution to journalArticlepeer-review


Methods: Using a validated questionnaire, we screened eye symptoms (burning sensation, grittiness, dry eye) in 333 first-degree relatives of 140 probands with different forms of primary adult-onset dystonia, 208 healthy subjects, and 293 patients with primary blepharospasm. Results: The rate of eye symptoms was similar in the relatives of focal dystonia patients and in healthy subjects (adjusted HR, 1.1; 95% CI, 0.7-1.7; P = .69), thus suggesting a common origin of eye symptoms in both groups. A higher rate was observed in blepharospasm patients (adjusted HR, 2; 95% CI, 1.4-2.9; P <.0001). Relatives of focal dystonia patients who developed blepharospasm were more likely to have preceding eye symptoms than were relatives who developed focal dystonia other than blepharospasm (BSP) or relatives who did not develop dystonia. Conclusions: Eye symptoms reported by relatives of patients with focal dystonia probably result from eye diseases and are not part of the clinical spectrum of blepharospasm.

Original languageEnglish
Pages (from-to)305-307
Number of pages3
JournalMovement Disorders
Issue number2
Publication statusPublished - Feb 2012


  • Blepharospasm
  • Dystonia
  • Eye symptoms

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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