Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers

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dc.contributor.authorBarboni, Piero
dc.contributor.authorSavini, Giacomo
dc.contributor.authorFeuer, William J.
dc.contributor.authorBudenz, Donald L.
dc.contributor.authorCarbonelli, Michele
dc.contributor.authorChicani, Filipe [UNIFESP]
dc.contributor.authorRamos, Carolina do Val Ferreira [UNIFESP]
dc.contributor.authorSalomão, Solange Rios [UNIFESP]
dc.contributor.authorDe Negri, Annamaria
dc.contributor.authorParisi, Vincenzo
dc.contributor.authorCarelli, Valerio
dc.contributor.authorSadun, Alfredo A.
dc.contributor.institutionStudio Oculist dAzeglio
dc.contributor.institutionUniv Bologna
dc.contributor.institutionIRCCS
dc.contributor.institutionUniv Miami
dc.contributor.institutionUniv So Calif
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionAzienda San Camillo Forlanini
dc.date.accessioned2016-01-24T14:27:55Z
dc.date.available2016-01-24T14:27:55Z
dc.date.issued2012-11-01
dc.description.abstractPURPOSE. Recent investigations suggested that unaffected carriers of Leber hereditary optic neuropathy (LHON) may show subclinical visual alterations. Structural changes have also been detected by optical coherence tomography (007), which revealed a temporal thickening of the retinal nerve fiber layer (RNFL). These changes may reflect compensatory effects such as mitochondria accumulation within the RNFL axons. This study aimed to investigate whether the RNFL of LHON carriers shows greater than expected thickness variations, which may reflect transient subclinical changes, over the course of years.METHODS. Using Stratus OCT, the RNFL thickness was measured yearly from 2005 to 2008 in 24 Brazilian LHON carriers, all with homoplasmic 11778/ND4 mtDNA mutation. An Italian sample of 20 healthy subjects served as a control. Data were compared also to a previously published sample (n=59) of glaucomatous eyes.RESULTS. the LHON carriers showed test-retest standard deviations that were larger than normal controls in the temporal (p=0.004), superior (p<0.0001), and inferior quadrants (p=0.019). Compared to the glaucoma cases, no statistical differences were observed.CONCLUSIONS. the RNFL thickness in LHON carriers, when measured at different time points, has higher variability than in normal subjects. Transitory RNFL swelling may be caused either by compensatory mechanisms (increased mitochondrial biogenesis) or by axonal stasis preceding decompensation of retinal ganglion cells. in both situations, these changes may represent the origin of the visual alterations previously detected in LHON carriers. Alternatively, increased variability of RNFL thickness may be influenced by the LHON microangiopathy, as retinal blood vessels contribute to the OCT RNFL thickness measurements.en
dc.description.affiliationStudio Oculist dAzeglio, I-40123 Bologna, Italy
dc.description.affiliationUniv Bologna, Dipartimento Sci Neurol, Bologna, Italy
dc.description.affiliationIRCCS, Fdn GB Bietti, Rome, Italy
dc.description.affiliationUniv Miami, Miller Sch Med, Bascom Palmer Eye Inst, Dept Ophthalmol, Miami, FL 33136 USA
dc.description.affiliationUniv So Calif, Keck Sch Med, Dept Ophthalmol, Los Angeles, CA 90033 USA
dc.description.affiliationUniv So Calif, Keck Sch Med, Doheny Eye Inst, Los Angeles, CA 90033 USA
dc.description.affiliationUniversidade Federal de São Paulo, Dept Ophthalmol, UNIFESP, São Paulo, Brazil
dc.description.affiliationAzienda San Camillo Forlanini, Rome, Italy
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Ophthalmol, UNIFESP, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent985-991
dc.identifierhttp://dx.doi.org/10.5301/ejo.5000154
dc.identifier.citationEuropean Journal of Ophthalmology. Milan: Wichtig Editore, v. 22, n. 6, p. 985-991, 2012.
dc.identifier.doi10.5301/ejo.5000154
dc.identifier.issn1120-6721
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/35437
dc.identifier.wosWOS:000312043200017
dc.language.isoeng
dc.publisherWichtig Editore
dc.relation.ispartofEuropean Journal of Ophthalmology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectLeber hereditary optic neuropathyen
dc.subjectRetinal nerve fiber layer thicknessen
dc.titleRetinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriersen
dc.typeinfo:eu-repo/semantics/article
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