Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients | Zendy

Mirella Telles Salgueiro Barboni | Zendy; Clarissa Bueno | Zendy; Balázs Vince Nagy | Zendy; Patrícia Lobo Maia | Zendy; Kallene Summer Moreira Vidal | Zendy; Rosana Cardoso Alves | Zendy; Russel J. Reıter | Zendy; Fernanda Gaspar do Amaral | Zendy; José CipollaNeto | Zendy; Dora Fix Ventura | Zendy

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Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients

Author(s) -

Mirella Telles Salgueiro Barboni,

Clarissa Bueno,

Balázs Vince Nagy,

Patrícia Lobo Maia,

Kallene Summer Moreira Vidal,

Rosana Cardoso Alves,

Russel J. Reıter,

Fernanda Gaspar do Amaral,

José CipollaNeto,

Dora Fix Ventura

Publication year - 2018

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.17-22612

Subject(s) - melanopsin , history , medicine , ophthalmology , retinal , photopigment

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.

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