title: Ophthalmological findings in Joubert syndrome.
abstract: OBJECTIVE
  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 (CEP290 mutation in two cases and AHI1 mutation 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 CEP290 and AHI1 mutations for retinal involvement.
authors.affiliation: Department of Ophthalmology, University Hospital of Zurich, Zurich, Switzerland. veit_sturm@yahoo.com
authors.forename: V
authors.initials: V
authors.lastname: Sturm
authors.forename: H
authors.initials: H
authors.lastname: Leiba
authors.forename: M N
authors.initials: MN
authors.lastname: Menke
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: A
authors.initials: A
authors.lastname: Poretti
authors.forename: K
authors.initials: K
authors.lastname: Landau
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002526:Cerebellar Diseases / Q000235:genetics / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005838:Genotype; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000503:physiopathology; D008297:Male; D015835:Ocular Motility Disorders / Q000503:physiopathology; D015594:Optic Disk Drusen / Q000473:pathology; D012160:Retina / Q000002:abnormalities / Q000473:pathology* / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000473:pathology; D012189:Retrospective Studies; D012438:Saccades / Q000502:physiology; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult