Navegando por Palavras-chave "retinohypothalamic pathway"
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- ItemAcesso aberto (Open Access)Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients(Assoc Research Vision Ophthalmology Inc, 2018) Salgueiro Barboni, Mirella Telles; Bueno, Clarissa; Nagy, Balazs Vince; Maia, Patricia Lobo; Moreira Vidal, Kallene Summer; Alves, Rosana Cardoso; Reiter, Russel J.; do Amaral, Fernanda Gaspar [UNIFESP]; Cipolla-Neto, Jose; Ventura, Dora FixPURPOSE: 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 nm