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Clilnical and oculographic findings of X-linked congenital nystagmus in three Korean families

DC Field Value Language
dc.contributor.authorJung, Ki-Young-
dc.contributor.authorOh, Sun-Young-
dc.contributor.authorShin, Byong-Soo-
dc.contributor.authorHwang, Jeong-Min-
dc.contributor.authorKim, Ji Soo-
dc.creator정기영-
dc.date.accessioned2014-05-13T00:55:06Z-
dc.date.available2014-05-13T00:55:06Z-
dc.date.issued2007-09-
dc.identifier.citationJournal of clinical neurology, Vol.3 No.3, pp. 139-146-
dc.identifier.issn1738-6586-
dc.identifier.urihttps://hdl.handle.net/10371/91759-
dc.description.abstractBackground and purpose: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. Typical features of CN include bilateral, conjugate, uniplanar, and usually horizontal eye movements, a null position, increased oscillation during fixation, and decreased amplitude during convergence. Our purposes were description and analysis of clinical and oculomotor findings of patients with X-linked familial CN.
Methods: We describe the clinical and oculographic features of five patients from three families with X-linked CN. Three-dimensional video-oculography disclosed various patterns of CN and variable degrees of gaze-holding deficits and visual impairments.
Results: The features of CN varied even in patients from the same family. Head tilt, strabismus, reversal of optokinetic nystagmus, and impairments of the vestibulo-ocular reflex, smooth pursuits, and saccades were frequent findings.
Conclusions: The intra- and interfamilial diversities imply that heredity plays a secondary role in determining the clinical phenotypes and waveforms of CN.
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dc.language.isoenen
dc.publisherKorean Neurological Associationen
dc.subject의약학en
dc.subjectVideo-oculography-
dc.subjectCongenital nystagmus-
dc.subject.otherCongenital nystagmus-
dc.titleClilnical and oculographic findings of X-linked congenital nystagmus in three Korean familiesen
dc.typeArticle-
dc.contributor.AlternativeAuthor오선영-
dc.contributor.AlternativeAuthor신병수-
dc.contributor.AlternativeAuthor정기영-
dc.contributor.AlternativeAuthor황정민-
dc.contributor.AlternativeAuthor김지수-
dc.identifier.doi10.3988/jcn.2007.3.3.139-
dc.description.srndOAIID:oai:osos.snu.ac.kr:snu2007-01/102/2014017262/7-
dc.description.srndSEQ:7-
dc.description.srndPERF_CD:SNU2007-01-
dc.description.srndEVAL_ITEM_CD:102-
dc.description.srndUSER_ID:2014017262-
dc.description.srndADJUST_YN:N-
dc.description.srndEMP_ID:A079623-
dc.description.srndDEPT_CD:801-
dc.description.srndCITE_RATE:0-
dc.description.srndDEPT_NM:의학과-
dc.description.srndSCOPUS_YN:N-
dc.description.srndCONFIRM:Y-
dc.identifier.srnd2007-01/102/2014017262/7-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Dept. of Neurology (신경과학교실)Journal Papers (저널논문_신경과학교실)
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