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Title: Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss
Authors: Ross-Cisneros, Fred N.
Pan, Billy X.
Silva, Ruwan A.
Miller, Neil R.
Albini, Thomas A.
Tranebjaerg, Lisbeth
Rendtorff, Nanna D.
Lodahl, Marianne
Moraes-Filho, Milton N.
Moraes, Milton N.
Salomão, Solange Rios [UNIFESP]
Berezovsky, Adriana [UNIFESP]
Belfort, Rubens [UNIFESP]
Carelli, Valerio
Sadun, Alfredo A.
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
Keywords: Wolfram Syndrome
Leber hereditary optic neuropathy
Optic nerve
Retinal ganglion cell
Axonal degeneration
Myelin basic protein
Issue Date: 1-Nov-2013
Publisher: Elsevier B.V.
Citation: Mitochondrion. Oxford: Elsevier B.V., v. 13, n. 6, p. 841-845, 2013.
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.
ISSN: 1567-7249
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