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Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.

2014Journal article Restricted access
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dc.contributor.authorPina, S
dc.contributor.authorPedrosa, C
dc.contributor.authorFeijóo, B
dc.contributor.authorMachado, S
dc.contributor.authorPrieto, I
dc.contributor.authorCosta, C
dc.contributor.authorSantos, MJ
dc.date.accessioned2016-11-18T12:28:49Z
dc.date.available2016-11-18T12:28:49Z
dc.date.issued2014
dc.description.abstractThe authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratoconus with horizontal gaze palsy with progressive scoliosis suggests that ophthalmologic assessment should search for signs of this ectasia in these patients.pt_PT
dc.identifier.citationJ Pediatr Ophthalmol Strabismus. 2014 May 28;51 Online:e29-32pt_PT
dc.identifier.doi10.3928/01913913-20140521-01pt_PT
dc.identifier.issn1938-2405
dc.identifier.urihttp://hdl.handle.net/10400.10/1760
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSlackpt_PT
dc.subjectOcular Motility Disorderspt_PT
dc.subjectScoliosispt_PT
dc.subjectDevelopmental Disabilitiespt_PT
dc.subjectPerturbações do desenvolvimentopt_PT
dc.subjectEscoliosept_PT
dc.subjectPerturbações da motilidade ocularpt_PT
dc.titleHorizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceThorofare, N. J.pt_PT
oaire.citation.endPagee32pt_PT
oaire.citation.startPagee29pt_PT
oaire.citation.titleJournal of Pediatric Ophthalmology and Strabismuspt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT

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