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-tocomplete oculomotor apraxia seem to be the key oculomotor features of JS. Genotypephenotype correlations showed the predictive value of CEP290 and AHI1 mutations for retinal involvement.

The effect of hemodialysis and of ultrafiltration on intraocular pressure (IOP) was studied in 30 non glaucomatous patients (58 eyes) with chronic renal failure. IOP and serum osmolality were measured before and after dialysis and every hour during the procedure. IOP showed a slight but non-significant rise when measured after hemodialysis and a significant drop for ultrafiltration. Serum osmolality decreased significantly when measured after hemodialysis, but remained stable for ultrafiltration. The variations in IOP were found to be significantly correlated with changes in osmolality during hemodialysis.