Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients
PURPOSE: 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 retin...
| Autores: | ; ; ; ; ; ; ; ; ; |
|---|---|
| Tipo de documento: | Artículo |
| Estado: | Published version |
| Fecha de publicación: | 2018 |
| País: | Brasil |
| Institución: | UNIFESP |
| Repositorio: | Repositório Institucional da UNIFESP |
| Lenguaje: | Inglés |
| OAI Identifier: | oai:repositorio.unifesp.br:11600/53841 |
| Acceso en línea: | http://dx.doi.org/10.1167/iovs.17-22612 https://repositorio.unifesp.br/handle/11600/53841 |
| Nivel de acceso: | Acceso abierto |
| Palabra clave: | retina ipRGC melanopsin retinohypothalamic pathway pupillary light reflex pupillometry Smith-Magenis syndrome |
| Sumario: | PURPOSE: 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 |
|---|