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Ophthalmological manifestations in patients with Leigh syndrome

DC FieldValueLanguage
dc.contributor.author이영목-
dc.contributor.author이종복-
dc.contributor.author한소영-
dc.contributor.author한승한-
dc.contributor.author한진우-
dc.date.accessioned2016-02-04T11:07:40Z-
dc.date.available2016-02-04T11:07:40Z-
dc.date.issued2015-
dc.identifier.issn0007-1161-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/139725-
dc.description.abstractBACKGROUND: To describe the ophthalmological manifestations in patients with childhood onset Leigh syndrome (LS) and investigate the correlation between genotypes and phenotypes in patients with LS. METHODS: Childhood onset LS was clinically and enzymatically confirmed in a total of 63 patients. Among them, 44 patients who underwent ophthalmologic consultation were included in this study. Patients with LS underwent genotyping for the whole genome of mitochondrial DNA and SURF1 mutations. The clinical demographic and ophthalmologic phenotypes were compared between the good prognosis group and the poor prognosis group. RESULTS: Strabismus (40.9%) was the most frequently observed ophthalmologic manifestation, followed by pigmentary retinopathy (22.5%), optic atrophy (22.5%), ptosis (15.9%), and nystagmus (13.6%). Thirteen patients were exotropes and five patients were esotropes. The mean exodeviation was 29.6±12.5 prism dioptres (PD) and the mean esodeviation was 24.0±8.9 PD. All patients with esotropia reported disease onset at <1 year old. Among 26 patients older than 4 years, eight (30.8%) patients had better than 0.4 in the best eye was noted. Eyelid ptosis was a main presenting sign in four patients (9.1%). Among these patients, two patients had m.13513G>A mutation in the MT-ND5 gene. Age at onset was 2.47±2.06 years in the good prognosis group and 0.92±0.98 years in the poor prognosis group (p=0.002). Serum lactate peak concentration was 3.23±1.36 mmol/L in the good prognosis group and 4.54±2.31 mmol/L in the poor prognosis group (p=0.051). CONCLUSIONS: LS is a group of mitochondrial disorders with variable ophthalmologic manifestations, the most frequent being strabismus in this study. Ptosis could be an initial sign in patients with LS and these patients can be easily misdiagnosed as having juvenile myasthenia gravis.-
dc.description.statementOfResponsibilityopen-
dc.format.extent528~535-
dc.relation.isPartOfBRITISH JOURNAL OF OPHTHALMOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAge of Onset-
dc.subject.MESHBlepharoptosis/diagnosis*-
dc.subject.MESHBlepharoptosis/genetics-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHDNA, Mitochondrial/genetics-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Association Studies-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHLeigh Disease/diagnosis*-
dc.subject.MESHLeigh Disease/genetics-
dc.subject.MESHMagnetic Resonance Imaging-
dc.subject.MESHMale-
dc.subject.MESHMembrane Proteins/genetics-
dc.subject.MESHMitochondrial Diseases/diagnosis*-
dc.subject.MESHMitochondrial Diseases/genetics-
dc.subject.MESHMitochondrial Proteins/genetics-
dc.subject.MESHMutation-
dc.subject.MESHNystagmus, Pathologic/diagnosis*-
dc.subject.MESHNystagmus, Pathologic/genetics-
dc.subject.MESHOptic Atrophy/diagnosis*-
dc.subject.MESHOptic Atrophy/genetics-
dc.subject.MESHPrognosis-
dc.subject.MESHRetinitis Pigmentosa/diagnosis*-
dc.subject.MESHRetinitis Pigmentosa/genetics-
dc.subject.MESHRetrospective Studies-
dc.subject.MESHStrabismus/diagnosis*-
dc.subject.MESHStrabismus/genetics-
dc.subject.MESHVisual Fields-
dc.titleOphthalmological manifestations in patients with Leigh syndrome-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorJinu Han-
dc.contributor.googleauthorYoung-Mock Lee-
dc.contributor.googleauthorSang Myung Kim-
dc.contributor.googleauthorSo Young Han-
dc.contributor.googleauthorJong Bok Lee-
dc.contributor.googleauthorSueng-Han Han-
dc.identifier.doi10.1136/bjophthalmol-2014-305704-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA02955-
dc.contributor.localIdA03140-
dc.contributor.localIdA04290-
dc.contributor.localIdA04303-
dc.contributor.localIdA04329-
dc.relation.journalcodeJ00412-
dc.identifier.eissn1468-2079-
dc.identifier.pmid25351680-
dc.identifier.urlhttp://bjo.bmj.com/content/99/4/528.long-
dc.subject.keywordGenetics-
dc.subject.keywordMuscles-
dc.subject.keywordOptic Nerve-
dc.contributor.alternativeNameLee, Young Mock-
dc.contributor.alternativeNameLee, Jong Bok-
dc.contributor.alternativeNameHan, So Young-
dc.contributor.alternativeNameHan, Seung Han-
dc.contributor.alternativeNameHan, Jin U-
dc.contributor.affiliatedAuthorLee, Young Mock-
dc.contributor.affiliatedAuthorLee, Jong Bok-
dc.contributor.affiliatedAuthorHan, So Young-
dc.contributor.affiliatedAuthorHan, Seung Han-
dc.contributor.affiliatedAuthorHan, Jin U-
dc.rights.accessRightsnot free-
dc.citation.volume99-
dc.citation.number4-
dc.citation.startPage528-
dc.citation.endPage535-
dc.identifier.bibliographicCitationBRITISH JOURNAL OF OPHTHALMOLOGY, Vol.99(4) : 528-535, 2015-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

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