Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy - Visual electrophysiology in LHON

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dc.contributor.authorSalomão, Solange Rios [UNIFESP]
dc.contributor.authorBerezovsky, Adriana [UNIFESP]
dc.contributor.authorAndrade, R. E.
dc.contributor.authorBelfort, R.
dc.contributor.authorCarelli, Valerio
dc.contributor.authorSadun, Alfredo A.
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Bologna
dc.contributor.institutionUniv So Calif
dc.date.accessioned2016-01-24T12:37:02Z
dc.date.available2016-01-24T12:37:02Z
dc.date.issued2004-03-01
dc.description.abstractLeber's hereditary optic neuropathy (LHON) is a maternally inherited disease, associated with mitochondrial DNA (mtDNA) point mutations and characterized by bilateral, usually sequential, rapid loss of central vision. the purpose of this study was to investigate electrophysiologically a small cohort of members from an extensive Brazilian family affected by LHON. Pattern-reversal visual evoked potentials (PVEP), and full-field electroretinograms (ERG) were performed on the four index members, all carrying the 11778 homoplasmic mtDNA mutation. They were a 14-year-old recently affected male, his unaffected mother, and her two affected brothers. the three affected members all had bilateral profound visual loss with visual acuities that ranged from 20/250 to CF, cecocentral defects, and severe dyschromatopsia (by FM-100). the unaffected (carrier) female had normal visual acuities, visual fields and color discrimination. Severely prolonged P100 latencies and decreased N75-P100 peak amplitudes were found in pattern-reversal VEPs for three affected members. Normal PVEP responses were found in the carrier female. Rod and cone ERG responses were normal in two affected members, but both the carrier mother and her affected son showed reduced peak-to-peak amplitude for single-flash cone response and 30 Hz flicker, with normal b-wave implicit times. Thus, optic nerve function, evaluated by PVEP, was severely reduced in LHON affected members and normal in the carrier female. However, reduced ERG cone responses suggest that LHON can also affect retinal elements, even in the absence of fundus and other clinical changes that constitute the full and classical expression of LHON.en
dc.description.affiliationUniversidade Federal de São Paulo, Paulista Sch Med, Dept Ophthalmol, Clin Electrophysiol Vis Lab, BR-04023062 São Paulo, Brazil
dc.description.affiliationUniv Bologna, Dept Neurosci, Bologna, Italy
dc.description.affiliationUniv So Calif, Doheny Eye Inst, Los Angeles, CA USA
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Paulista Sch Med, Dept Ophthalmol, Clin Electrophysiol Vis Lab, BR-04023062 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent147-155
dc.identifierhttp://dx.doi.org/10.1023/B:DOOP.0000036829.37053.31
dc.identifier.citationDocumenta Ophthalmologica. Dordrecht: Kluwer Academic Publ, v. 108, n. 2, p. 147-155, 2004.
dc.identifier.doi10.1023/B:DOOP.0000036829.37053.31
dc.identifier.issn0012-4486
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/27659
dc.identifier.wosWOS:000223605400005
dc.language.isoeng
dc.publisherKluwer Academic Publ
dc.relation.ispartofDocumenta Ophthalmologica
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectelectroretinographyen
dc.subjectLHONen
dc.subjectvisual acuityen
dc.subjectvisual fieldsen
dc.subjectvisually evoked potentialsen
dc.titleVisual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy - Visual electrophysiology in LHONen
dc.typeinfo:eu-repo/semantics/article
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