Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients

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dc.citation.issue1
dc.citation.volume59
dc.contributor.authorSalgueiro Barboni, Mirella Telles
dc.contributor.authorBueno, Clarissa
dc.contributor.authorNagy, Balazs Vince
dc.contributor.authorMaia, Patricia Lobo
dc.contributor.authorMoreira Vidal, Kallene Summer
dc.contributor.authorAlves, Rosana Cardoso
dc.contributor.authorReiter, Russel J.
dc.contributor.authordo Amaral, Fernanda Gaspar [UNIFESP]
dc.contributor.authorCipolla-Neto, Jose
dc.contributor.authorVentura, Dora Fix
dc.coverageRockville
dc.date.accessioned2020-07-02T18:52:02Z
dc.date.available2020-07-02T18:52:02Z
dc.date.issued2018
dc.description.abstractPURPOSE: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. METHODS: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4). Visual stimuli were 1-second red light flashes (640 nmen
dc.description.abstractinsignificant direct ipRGC activation), followed by a 470-nm blue light, near the melanopsin peak absorption region (direct ipRGC activation). Blue flashes produce a sustained pupillary constriction (ipRGC driven) followed by baseline return, while red flashes produce faster recovery. RESULTS: Pupillary light responses to 640-nm red flash were normal in SMS patients. In response to 470-nm blue flash, SMS patients had altered sustained responses shown by faster recovery to baseline. SMS patients showed impairment in the expected melatonin production suppression during the day, confirming previous reports. CONCLUSIONS: SMS patients show dysfunction in the sustained component of the PLR to blue light. It could explain their well-known abnormal melatonin profile and elevated circulating melatonin levels during the day. Synchronization of daily melatonin profile and its photoinhibition are dependent on the activation of melanopsin. This retinal dysfunction might be related to a deficit in melanopsin-based photoreception, but a deficit in rod function is also possible.en
dc.description.affiliationUniv Sao Paulo, Dept Expt Psychol, Inst Psychol, Sao Paulo, Brazil
dc.description.affiliationSemmelweis Univ, Dept Ophthalmol, Budapest, Hungary
dc.description.affiliationUniv Sao Paulo, Dept Neurol, Fac Med, Sao Paulo, Brazil
dc.description.affiliationBudapest Univ Technol & Econ, Dept Mechatron Opt & Engn Informat, Budapest, Hungary
dc.description.affiliationUniv Texas San Antonio, Dept Cellular & Struct Biol, San Antonio, TX USA
dc.description.affiliationUniv Fed Sao Paulo, Dept Physiol, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Dept Physiol & Biophys, Inst Biomed Sci, Av Lineu Prestes 1524, BR-05508000 Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Physiol, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipSao Paulo Research Foundation (FAPESP) [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5]
dc.description.sponsorshipNational Council for Scientific and Technological Development (CNPq) [480428/2013-4, 470785/2014-4, 404239/2016-1]
dc.description.sponsorshipCAPES [3263/2013]
dc.description.sponsorshipJanos Bolyai Scholarship of the Hungarian Academy of Sciences
dc.description.sponsorshipIDFAPESP [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5]
dc.description.sponsorshipIDCNPq [480428/2013-4, 470785/2014-4, 404239/2016-1]
dc.description.sponsorshipIDCAPES [3263/2013]
dc.format.extent362-369
dc.identifierhttp://dx.doi.org/10.1167/iovs.17-22612
dc.identifier.citationInvestigative Ophthalmology & Visual Science. Rockville, v. 59, n. 1, p. 362-369, 2018.
dc.identifier.doi10.1167/iovs.17-22612
dc.identifier.fileWOS000425855900044.pdf
dc.identifier.issn0146-0404
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/53841
dc.identifier.wosWOS:000425855900044
dc.language.isoeng
dc.publisherAssoc Research Vision Ophthalmology Inc
dc.relation.ispartofInvestigative Ophthalmology & Visual Science
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectretinaen
dc.subjectipRGCen
dc.subjectmelanopsinen
dc.subjectretinohypothalamic pathwayen
dc.subjectpupillary light reflexen
dc.subjectpupillometryen
dc.subjectSmith-Magenis syndromeen
dc.titleMelanopsin System Dysfunction in Smith-Magenis Syndrome Patientsen
dc.typeinfo:eu-repo/semantics/article
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