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Clilnical and oculographic findings of X-linked congenital nystagmus in three Korean families
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Jung, Ki-Young | - |
dc.contributor.author | Oh, Sun-Young | - |
dc.contributor.author | Shin, Byong-Soo | - |
dc.contributor.author | Hwang, Jeong-Min | - |
dc.contributor.author | Kim, Ji Soo | - |
dc.creator | 정기영 | - |
dc.date.accessioned | 2014-05-13T00:55:06Z | - |
dc.date.available | 2014-05-13T00:55:06Z | - |
dc.date.issued | 2007-09 | - |
dc.identifier.citation | Journal of clinical neurology, Vol.3 No.3, pp. 139-146 | - |
dc.identifier.issn | 1738-6586 | - |
dc.identifier.uri | https://hdl.handle.net/10371/91759 | - |
dc.description.abstract | Background 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. | - |
dc.language.iso | en | en |
dc.publisher | Korean Neurological Association | en |
dc.subject | 의약학 | en |
dc.subject | Video-oculography | - |
dc.subject | Congenital nystagmus | - |
dc.subject.other | Congenital nystagmus | - |
dc.title | Clilnical and oculographic findings of X-linked congenital nystagmus in three Korean families | en |
dc.type | Article | - |
dc.contributor.AlternativeAuthor | 오선영 | - |
dc.contributor.AlternativeAuthor | 신병수 | - |
dc.contributor.AlternativeAuthor | 정기영 | - |
dc.contributor.AlternativeAuthor | 황정민 | - |
dc.contributor.AlternativeAuthor | 김지수 | - |
dc.identifier.doi | 10.3988/jcn.2007.3.3.139 | - |
dc.description.srnd | OAIID:oai:osos.snu.ac.kr:snu2007-01/102/2014017262/7 | - |
dc.description.srnd | SEQ:7 | - |
dc.description.srnd | PERF_CD:SNU2007-01 | - |
dc.description.srnd | EVAL_ITEM_CD:102 | - |
dc.description.srnd | USER_ID:2014017262 | - |
dc.description.srnd | ADJUST_YN:N | - |
dc.description.srnd | EMP_ID:A079623 | - |
dc.description.srnd | DEPT_CD:801 | - |
dc.description.srnd | CITE_RATE:0 | - |
dc.description.srnd | DEPT_NM:의학과 | - |
dc.description.srnd | SCOPUS_YN:N | - |
dc.description.srnd | CONFIRM:Y | - |
dc.identifier.srnd | 2007-01/102/2014017262/7 | - |
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