Acquired Convergence Substitution in Horizontal Gaze Palsy and Progressive Scoliosis Associated with ROBO3 Mutations

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dc.contributor.authorBakbak, Berker
dc.contributor.authorKansu, Tulay
dc.date.accessioned2020-03-26T18:23:41Z
dc.date.available2020-03-26T18:23:41Z
dc.date.issued2012
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractTwo female (aged 12 and 14 years) patients with horizontal gaze palsy and progressive scoliosis (HGPPS) from two different Turkish families were evaluated through ophthalmic, neurological, radiological, and orthopaedic examinations. Each proband had one affected sibling with HGPPS. Both patients had absence of horizontal eye movements and simultaneous adduction of both eyes on attempted horizontal gaze associated with miosis. One proband was observed to have this finding at age 9, which had not been present at 5 years old. Neuroradiological imaging revealed brainstem hypoplasia (split pons sign) and scoliosis. The two index patients harboured different homozygous mutations that were heterozygous in the parents, who are obligate carriers. The emergence of convergence and presence of miosis during lateral gaze suggests that simultaneous adduction occurs as a result of the convergence substitution phenomenon. Substituted convergence in cases with HGPPS may occur with different mechanisms than substituted convergence in cases with pontine lesions.en_US
dc.identifier.doi10.3109/01658107.2012.710920en_US
dc.identifier.endpage207en_US
dc.identifier.issn0165-8107en_US
dc.identifier.issn1744-506Xen_US
dc.identifier.issue5en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage203en_US
dc.identifier.urihttps://dx.doi.org/10.3109/01658107.2012.710920
dc.identifier.urihttps://hdl.handle.net/20.500.12395/27706
dc.identifier.volume36en_US
dc.identifier.wosWOS:000309285600007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherTAYLOR & FRANCIS ASen_US
dc.relation.ispartofNEURO-OPHTHALMOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectConvergenceen_US
dc.subjectGaze palsyen_US
dc.subjectOcular motility disordersen_US
dc.subjectROBO3 mutationen_US
dc.subjectScoliosisen_US
dc.titleAcquired Convergence Substitution in Horizontal Gaze Palsy and Progressive Scoliosis Associated with ROBO3 Mutationsen_US
dc.typeArticleen_US

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