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dc.contributor.authorRoss-Cisneros, Fred N.
dc.contributor.authorPan, Billy X.
dc.contributor.authorSilva, Ruwan A.
dc.contributor.authorMiller, Neil R.
dc.contributor.authorAlbini, Thomas A.
dc.contributor.authorTranebjaerg, Lisbeth
dc.contributor.authorRendtorff, Nanna D.
dc.contributor.authorLodahl, Marianne
dc.contributor.authorMoraes-Filho, Milton N.
dc.contributor.authorMoraes, Milton N.
dc.contributor.authorSalomão, Solange Rios [UNIFESP]
dc.contributor.authorBerezovsky, Adriana [UNIFESP]
dc.contributor.authorBelfort, Rubens [UNIFESP]
dc.contributor.authorCarelli, Valerio
dc.contributor.authorSadun, Alfredo A.
dc.identifier.citationMitochondrion. Oxford: Elsevier B.V., v. 13, n. 6, p. 841-845, 2013.
dc.description.abstractMitochondrial dysfunction in Wolfram Syndrome (WS) is controversial and optic neuropathy, a cardinal clinical manifestation, is poorly characterized. We here describe the histopathological features in postmortem retinas and optic nerves (ONs) from one patient with WS, testing the hypothesis that mitochondrial dysfunction underlies the pathology. Eyes and retrobulbar ONs were obtained at autopsy from a WS patient, and compared with those of a Leber hereditary optic neuropathy (LHON) patient and one healthy control. Retinas were stained with hematoxylin & eosin for general morphology and ONs were immunostained for myelin basic protein (MBP). Immunostained ONs were examined in four quadrants: superior, inferior, nasal, and temporal. the WS retinas displayed a severe loss of retinal ganglion cells in the macular region similar to the LHON retina, but not in the control. the WS ONs, immunostained for MBP, revealed a zone of degeneration in the temporal and inferior quadrants. This pattern was similar to that seen in the LHON ONs but not in the control. Thus, the WS patient displayed a distinct pattern of optic atrophy observed bilaterally in the temporal and inferior quadrants of the ONs. This arrangement of axonal degeneration, involving primarily the papillomacular bundle, closely resembled LHON and other mitochondrial optic neuropathies, supporting that mitochondrial dysfunction underlies its pathogenesis. (C) 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.en
dc.description.sponsorshipResearch to Prevent Blindness
dc.description.sponsorshipInternational Foundation for Optic Nerve Diseases (IFOND)
dc.description.sponsorshipStruggling Within Leber's
dc.description.sponsorshipPoincenot Family
dc.description.sponsorshipEierman Foundation
dc.description.sponsorshipNational Eye Institute
dc.description.sponsorshipLundbeck Foundation
dc.description.sponsorshipWidex A/S
dc.publisherElsevier B.V.
dc.rightsAcesso restrito
dc.subjectWolfram Syndromeen
dc.subjectLeber hereditary optic neuropathyen
dc.subjectOptic nerveen
dc.subjectRetinal ganglion cellen
dc.subjectAxonal degenerationen
dc.subjectMyelin basic proteinen
dc.titleOptic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal lossen
dc.contributor.institutionUniv So Calif
dc.contributor.institutionUniv Miami
dc.contributor.institutionJohns Hopkins Sch Med
dc.contributor.institutionBispebjerg Hosp
dc.contributor.institutionUniv Copenhagen
dc.contributor.institutionInst Olhos Colatina
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Bologna
dc.contributor.institutionIRCCS Ist Sci Neurol
dc.description.affiliationUniv So Calif, Keck Sch Med, Doheny Eye Inst, Los Angeles, CA 90033 USA
dc.description.affiliationUniv So Calif, Keck Sch Med, Dept Ophthalmol, Los Angeles, CA 90033 USA
dc.description.affiliationUniv Miami, Miller Sch Med, Bascom Palmer Eye Inst, Miami, FL 33136 USA
dc.description.affiliationUniv Miami, Miller Sch Med, Dept Ophthalmol, Miami, FL 33136 USA
dc.description.affiliationJohns Hopkins Sch Med, Wilmer Eye Inst, Baltimore, MD USA
dc.description.affiliationJohns Hopkins Sch Med, Dept Ophthalmol, Baltimore, MD USA
dc.description.affiliationBispebjerg Hosp, Dept Audiol, DK-2400 Copenhagen, Denmark
dc.description.affiliationUniv Copenhagen, Dept Cellular & Mol Med, Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark
dc.description.affiliationInst Olhos Colatina, Colatina, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Ophthalmol, São Paulo, Brazil
dc.description.affiliationUniv Bologna, Dept Biomed Neuromotor Sci DIBINEM, Bologna, Italy
dc.description.affiliationIRCCS Ist Sci Neurol, Bologna, Italy
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Ophthalmol, São Paulo, Brazil
dc.description.sponsorshipIDNational Eye Institute: EY03040
dc.description.sponsorshipIDLundbeck Foundation: 32011
dc.description.sourceWeb of Science
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