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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.

Purpose: To determine whether a decrease in blood flow, measured by the Heidelberg retiinal flowmeter, can characterise a disc at risk and predict the occurrence of non-arteritic anterior ischaemic optic neuropathy (NAION)., Methods: Blood flow, volume and velocity were measured in the optic nerve heads of 14 unaffected fellow eyes of patients with unilateral NAION, and compared with those of the affected eyes and of the eyes of 7 age-matched healthy controls., Results: The affected eyes were found to differ from the unaffected eyes in all three haemodynamic parameters. Flow (measured in arbitrary units) is the most important parameter to be taken into consideration. Blood flow was significantly lower in affected than in unaffected eyes (upper rim, p < 0.05; lower rim, p < 0.025). It was also significantly lower in the unaffected eyes than in the healthy control eyes (p < 0.005, upper and lower rims), and in the affected eyes than in the control eyes (p < 0.00005, upper and lower rims)., Conclusion: Decreased blood flow in the optic nerve head may indicate a risk for NAION and be considered a characteristic of the disc at risk.

The ocular manifestations in a family with Stickler syndrome and the results of laser photocoagulation as preventive treatment for retinal detachment are described. Forty-two family members with Stickler syndrome were retrospectively reviewed; 22 had ocular abnormalities, 22 had myopia and 16 had high myopia. Ten patients had developed retinal detachment and 9 of them were blind in one or both eyes because of irreparable detachment. Only 2 eyes had been operated on successfully. Ten eyes were lasered prophylactically. In eyes with extensive vitreoretinopathy laser burns were applied 360 degrees around the peripheral retina at the border between the pathological and normal retina. Eyes with isolated lesions received focal treatment around the pathological areas. Four eyes received 360 degrees laser photocoagulation and 6 eyes received focal treatment. Of the treated cases, 9 retinas remained attached for a follow-up period ranging from 1 to 15 years. One patient was lost to follow-up, and 5 years later developed retinal detachment in one eye from a new non-lasered lesion. In conclusion, in this particular family the incidence of retinal detachment was significantly higher in non-lasered eyes than in lasered eyes (p < 0.025).