Quick Search:

uzh logo
Browse by:
bullet
bullet
bullet
bullet

Zurich Open Repository and Archive 

Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-24433

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

[img]Accepted Version
PDF
1197Kb
[img]PDF - Registered users only
114Kb

Abstract

PurposeJoubert 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.MethodsIn 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.ResultsBilateral drusen of the optic disc were found in two patients. Four patients showed bilateral morphological and functional signs of retinal dystrophy (CEP290mutation in two cases and AHI1mutation in one case). In nine patients performance during smooth pursuit, saccades, and vestibulo-ocular reflex (VOR) cancellation was poor.ConclusionsTo 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 CEP290and AHI1mutations for retinal involvement.Eye advance online publication, 22 May 2009; doi:10.1038/eye.2009.116.

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
DDC:610 Medicine & health
Language:English
Date:2010
Deposited On:30 Nov 2009 10:58
Last Modified:27 Nov 2013 20:07
Publisher:Nature Publishing Group
ISSN:0950-222X
Publisher DOI:10.1038/eye.2009.116
PubMed ID:19461662
Citations:Web of Science®. Times Cited: 8
Google Scholar™

Users (please log in): suggest update or correction for this item

Repository Staff Only: item control page