Navegando por Palavras-chave "Wolfram Syndrome"

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    Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss
    (Elsevier B.V., 2013-11-01) 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
    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.
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    Síndrome de Wolfram: relato de caso
    (Conselho Brasileiro de Oftalmologia, 2004-12-01) Fontes, Bruno Machado [UNIFESP]; Chen, Jane [UNIFESP]; Príncipe, André Hasler [UNIFESP]; Sallum, Juliana Maria Ferraz [UNIFESP]; Chicani, Carlos Filipe [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders. It is an autossomic recessive disease, with incomplete penetrance and variable expressivity. The aim of this case report is to describe a patient who presents all the characteristics of Wolfram syndrome (DIDMOAD syndrome). JFP, African - American, 23 years old, presents with diabetes mellitus and insipidus, optic atrophy, deafness, peripheral polyneuropathy, autonomic neuropathy, neurogenic bladder, urinary tract dilation with recurrent infections, and azoospermia. Clinical examination, retinography, fluorescein angiogram, eletroretinography (ERG) and visual evocated potencial (VEP) revealed no retinal disorders and bilateral optic atrophy. Wolfram syndrome must be remembered in cases of optic atrophy in association with diabetes, urinary disorders, or any of the described alterations.