Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy

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dc.contributor.authorSacai, Paula Yuri [UNIFESP]
dc.contributor.authorSalomão, Solange Rios [UNIFESP]
dc.contributor.authorCarelli, Valerio
dc.contributor.authorPereira, Josenilson Martins [UNIFESP]
dc.contributor.authorBelfort, Rubens [UNIFESP]
dc.contributor.authorSadun, Alfredo Arrigo
dc.contributor.authorBerezovsky, Adriana [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Bologna
dc.contributor.institutionKeck Univ So Calif
dc.date.accessioned2016-01-24T14:05:31Z
dc.date.available2016-01-24T14:05:31Z
dc.date.issued2010-10-01
dc.description.abstractTo investigate pattern-reversal visual evoked potentials (PRVEP) in asymptomatic maternally and non-maternally related members from a large Brazilian 11778/ND4 LHON pedigree. Transient PRVEP for check sizes 15' and 60' were recorded from asymptomatic mutation carriers and non-mutant descendants of affected/non-affected males, all with best-corrected visual acuity of 20/20. A control group of spouses (off-pedigree) was also included. Parameters of N75, P100 and N135 latencies (ms) and N75-P100 peak-to-peak amplitude (mu V) as well as temporal dispersion (latency of N135-latency of N75) were determined. Longitudinal testing was obtained in a subseries of carriers in three annual consecutive visits. We tested 48 asymptomatic mutation carriers, 19 descendants of affected males, 9 descendants of non-affected males and 27 off-pedigrees, all of the latter being non-mutant. All non-mutant male descendants did not differ from off-pedigree controls. Statistically prolonged P100 latencies were found in mutation carriers (P = 0.0143) when compared with off-pedigrees for check sizes 15', as well as significantly larger temporal dispersions for both check size 15' (P = 0.0012) and check size 60' (P = 0.0271). Serial testing in 15 mutation carriers disclosed prolonged P100 latencies and larger temporal dispersion that did not change over time. Subclinical PRVEP abnormalities were detected in this large group of asymptomatic carriers of the 11778/ND4 LHON mutation from the same family, confirming and extending previous psychophysical and structural findings of a selective involvement of the parvocellular pathway. PRVEP is a useful test to characterize and monitor visual dysfunction in this devastating disease.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Oftalmol, BR-04023062 São Paulo, Brazil
dc.description.affiliationUniv Bologna, Dipartimento Sci Neurol, Bologna, Italy
dc.description.affiliationKeck Univ So Calif, Sch Med, Doheny Eye Inst, Los Angeles, CA USA
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Oftalmol, BR-04023062 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipInternational Foundation for Optic Nerve Disease-IFOND
dc.format.extent147-154
dc.identifierhttp://dx.doi.org/10.1007/s10633-010-9241-2
dc.identifier.citationDocumenta Ophthalmologica. Dordrecht: Springer, v. 121, n. 2, p. 147-154, 2010.
dc.identifier.doi10.1007/s10633-010-9241-2
dc.identifier.issn0012-4486
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/32946
dc.identifier.wosWOS:000281935900007
dc.language.isoeng
dc.publisherSpringer
dc.relation.ispartofDocumenta Ophthalmologica
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.subjectLeber hereditary optic neuropathyen
dc.subjectVisual evoked potentialsen
dc.subjectOptic nerveen
dc.subjectMitochondrial diseaseen
dc.subject11778 mutationen
dc.titleVisual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathyen
dc.typeinfo:eu-repo/semantics/article
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