Sturm V Leiba H Menke MN Valente EM Poretti A Landau K Boltshauser E 2010 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 (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. application/pdf https://sonar.ch/global/documents/4369 eng info:eu-repo/semantics/altIdentifier/doi/10.1038/eye.2009.116 info:eu-repo/semantics/altIdentifier/pmid/19461662 info:eu-repo/semantics/openAccess Eye (London, England). - 2010 Abnormalities, Multiple Adolescent Adult Cerebellar Diseases Cerebellum Child DNA Mutational Analysis Eye Abnormalities Female Genotype Humans Kidney Diseases, Cystic Male Ocular Motility Disorders Optic Disk Drusen Retina Retinal Pigment Epithelium Retrospective Studies Saccades Visual Acuity Young Adult Ophthalmological findings in Joubert syndrome. http://purl.org/coar/resource_type/c_6501