Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss

Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss

Author Ross-Cisneros, Fred N. Google Scholar
Pan, Billy X. Google Scholar
Silva, Ruwan A. Google Scholar
Miller, Neil R. Google Scholar
Albini, Thomas A. Google Scholar
Tranebjaerg, Lisbeth Google Scholar
Rendtorff, Nanna D. Google Scholar
Lodahl, Marianne Google Scholar
Moraes-Filho, Milton N. Google Scholar
Moraes, Milton N. Google Scholar
Salomão, Solange Rios Autor UNIFESP Google Scholar
Berezovsky, Adriana Autor UNIFESP Google Scholar
Belfort, Rubens Autor UNIFESP Google Scholar
Carelli, Valerio Google Scholar
Sadun, Alfredo A. Google Scholar
Institution Univ So Calif
Univ Miami
Johns Hopkins Sch Med
Bispebjerg Hosp
Univ Copenhagen
Inst Olhos Colatina
Universidade Federal de São Paulo (UNIFESP)
Univ Bologna
IRCCS Ist Sci Neurol
Abstract Mitochondrial 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.
Keywords Wolfram Syndrome
Leber hereditary optic neuropathy
Optic nerve
Retinal ganglion cell
Axonal degeneration
Myelin basic protein
Language English
Sponsor Research to Prevent Blindness
International Foundation for Optic Nerve Diseases (IFOND)
Struggling Within Leber's
Poincenot Family
Eierman Foundation
National Eye Institute
Lundbeck Foundation
Widex A/S
Grant number National Eye Institute: EY03040
Lundbeck Foundation: 32011
Date 2013-11-01
Published in Mitochondrion. Oxford: Elsevier B.V., v. 13, n. 6, p. 841-845, 2013.
ISSN 1567-7249 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 841-845
Origin http://dx.doi.org/10.1016/j.mito.2013.05.013
Access rights Closed access
Type Article
Web of Science ID WOS:000327280500036
URI http://repositorio.unifesp.br/handle/11600/36947

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