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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-41603

Sturm, V; Leiba, H; Menke, M N; Valente, E M; Poretti, A; Landau, K; Boltshauser, E (2010). Ophthalmological findings in Joubert syndrome. Eye, 24(2):222-225.

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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.


13 citations in Web of Science®
16 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Deposited On:21 Jan 2011 21:24
Last Modified:05 Apr 2016 14:33
Publisher:Nature Publishing Group
Publisher DOI:10.1038/eye.2009.116
PubMed ID:19461662

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