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Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients.
Barboni Mirella Telles Salgueiro, Bueno Clarissa, Nagy Balázs Vince, Maia Patrícia Lobo, Vidal Kallene Summer Moreira, Alves Rosana Cardoso et al.
Invest Ophthalmol Vis SciJan 20180 citationsObservational Study
SMS patients showed abnormal blue light pupillary responses, indicating melanopsin system dysfunction. This explains their disrupted melatonin profile and sleep, suggesting a retinal basis for their sleep issues.