Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy

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dc.contributor.authorVentura, Dora Fix
dc.contributor.authorGualtieri, Mirella
dc.contributor.authorOliveira, Andre G. F.
dc.contributor.authorCosta, Marcelo F.
dc.contributor.authorQuiros, Peter
dc.contributor.authorSadun, Federico
dc.contributor.authorNegri, Anna Maria de
dc.contributor.authorSalomão, Solange Rios [UNIFESP]
dc.contributor.authorBerezovsky, Adriana [UNIFESP]
dc.contributor.authorSherman, Jerome
dc.contributor.authorSadun, Alfredo A.
dc.contributor.authorCarelli, Valerio
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniv So Calif
dc.contributor.institutionOsped S Giovanni Evangelista
dc.contributor.institutionAzienda Osped S Camillo Forlanini
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionSUNY Coll Optometry
dc.contributor.institutionUniv Bologna
dc.date.accessioned2016-01-24T13:48:37Z
dc.date.available2016-01-24T13:48:37Z
dc.date.issued2007-05-01
dc.description.abstractPURPOSE. Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease resulting in loss of central vision and dyschromatopsia, caused by mitochondrial DNA point mutations. However, only a subset of the mutation carriers becomes affected, with a higher penetrance in males. This study was conducted to investigate chromatic losses in asymptomatic carriers of the LHON mutation.METHODS. Monocular chromatic discrimination was studied with the Cambridge Colour Test (CCT; Cambridge Research Systems, Ltd., Rochester, UK) along the protan, deutan, and tritan cone isolation axes in 46 LHON carriers (15 men) belonging to the same LHON maternal lineage and 74 age-matched control subjects (39 men), Inclusion criteria were absence of ophthalmic complaints and clear ocular media. A detailed neuro-ophthalmic examination was performed in all the LHON carriers.RESULTS. the differences in threshold between carriers and control subjects were significant for the three cone isolation axes at P < 0.0001. Sixty-five percent of the carriers had abnormal protan and/or deutan thresholds; some of those with higher thresholds also had elevated tritan thresholds (13%). the male thresholds were higher and more frequent than those of the women for the protan and deutan axes (ANOVA; P < 0.05), but not for tritan thresholds. in the most severe losses, the women had instances of diffuse defect whereas all the men displayed a red-green defect.CONCLUSIONS. Male LHON asymptomatic carriers had color vision losses with the red-green pattern of dyschromatopsia typical of patients affected with LHON, which includes elevation of tritan thresholds as well. This predominantly parvocellular (red-green) impairment is compatible with the histopathology of LHON, which affects mostly the papillomacular bundle. in contrast with male losses, female losses were less frequent and severe. These gender differences are relevant to understanding LHON pathophysiology, suggesting that hormonal factors may be of great importance.en
dc.description.affiliationUniv São Paulo, Ist Psicol, Dept Expt Psychol, BR-05508900 São Paulo, Brazil
dc.description.affiliationUniv So Calif, Keck Sch Med, Dept Ophthalmol, Doheny Eye Inst, Los Angeles, CA USA
dc.description.affiliationOsped S Giovanni Evangelista, Tivoli Roma, Italy
dc.description.affiliationAzienda Osped S Camillo Forlanini, Rome, Italy
dc.description.affiliationUniversidade Federal de São Paulo, Dept Ophthalmol, São Paulo, Brazil
dc.description.affiliationSUNY Coll Optometry, New York, NY 10010 USA
dc.description.affiliationUniv Bologna, Dept Neurol Sci, Bologna, Italy
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Ophthalmol, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent2362-2370
dc.identifierhttp://dx.doi.org/10.1167/iovs.06-0331
dc.identifier.citationInvestigative Ophthalmology & Visual Science. Rockville: Assoc Research Vision Ophthalmology Inc, v. 48, n. 5, p. 2362-2370, 2007.
dc.identifier.doi10.1167/iovs.06-0331
dc.identifier.issn0146-0404
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/29683
dc.identifier.wosWOS:000246067800066
dc.language.isoeng
dc.publisherAssoc Research Vision Ophthalmology Inc
dc.relation.ispartofInvestigative Ophthalmology & Visual Science
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleMale prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathyen
dc.typeinfo:eu-repo/semantics/article
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