Ophthalmological findings in Joubert syndrome

V. Sturm, H. Leiba, M. N. Menke, E. M. Valente, A. Poretti, K. Landau, E. Boltshauser

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Purpose Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings. Methods In a retrospective study, 10 consecutive patients, who met the revised diagnostic criteria of JS were included. Mutation analysis was carried out in all the cases. Each patient underwent a comprehensive neuro-ophthalmological examination. Results Bilateral drusen of the optic disc were found in two patients. Four patients showed bilateral morphological and functional signs of retinal dystrophy (CEP290mutation in two cases and AHI1mutation in one case). In nine patients performance during smooth pursuit, saccades, and vestibulo-ocular reflex (VOR) cancellation was poor. Conclusions To the best of our knowledge, the association of optic disc drusen with JS has not yet been described. In support of the earlier findings, decreased smooth pursuit and VOR cancellation, as well as partial-to-complete oculomotor apraxia seem to be the key oculomotor features of JS. Genotype-phenotype correlations showed the predictive value of CEP290and AHI1mutations for retinal involvement.

Original languageEnglish (US)
Pages (from-to)222-225
Number of pages4
Issue number2
StatePublished - Feb 2010
Externally publishedYes


  • Abnormal eye movements
  • Cerebellar vermis hypoplasia
  • Joubert syndrome
  • Optic disc drusen
  • Retinal dystrophy

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems


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