Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

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Main Author: Simão,Luciano Mesquita
Format: Digital revista
Language:English
Published: Conselho Brasileiro de Oftalmologia 2012
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492012000400013
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spelling oai:scielo:S0004-274920120004000132012-12-17Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case reportSimão,Luciano Mesquita Neuromyelitis optic Optic atrophy, hereditary, Leber Optic neuritis DNA, mitochondrial Mutation Humans Male Adult Case reports Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.info:eu-repo/semantics/openAccessConselho Brasileiro de OftalmologiaArquivos Brasileiros de Oftalmologia v.75 n.4 20122012-08-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492012000400013en10.1590/S0004-27492012000400013
institution SCIELO
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country Brasil
countrycode BR
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access En linea
databasecode rev-scielo-br
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region America del Sur
libraryname SciELO
language English
format Digital
author Simão,Luciano Mesquita
spellingShingle Simão,Luciano Mesquita
Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report
author_facet Simão,Luciano Mesquita
author_sort Simão,Luciano Mesquita
title Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report
title_short Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report
title_full Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report
title_fullStr Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report
title_full_unstemmed Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report
title_sort neuromyelitis optica antibody in leber hereditary optic neuropathy: case report
description Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.
publisher Conselho Brasileiro de Oftalmologia
publishDate 2012
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492012000400013
work_keys_str_mv AT simaolucianomesquita neuromyelitisopticaantibodyinleberhereditaryopticneuropathycasereport
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