Parkinsonism & related disorders · 2026
Attenuated melanopsin-mediated activity in focal dystonia.
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Steiner Oliver L, Angela Claudia, Melchert Sarah, Mohrbach Désirée, Mafael Victor, Brämswig Bastian, Klostermann Fabian
Аннотация
BACKGROUND AND OBJECTIVES: Focal dystonia (FD) is an extrapyramidal movement disorder, but various disease aspects challenge the view of a condition only involving neuronal motor systems. Here, we were interested in potential changes of retinal functions, accessible by chromatic pupillometry.
METHODS: Quantitative chromatic pupillometry was performed in 26 persons with FD and 20 age-/sex-matched healthy controls. Upon dark adaptation, standardized red (632 nm) and blue (462 nm) light pulses (100 cd/m2) were delivered to the pupils. Constrictions were recorded one and 6 s after the stimuli. The 1s-constriction is rod/cone-mediated, whereas the post illumination pupil response (PIPR) reflects the melanopsin-related activity of intrinsic photosensitive retinal ganglion cells (ipRGC) to blue light only.
RESULTS: Compared with controls, dystonia patients did not differ in baseline pupil diameter prior to red-light stimulation. Peak transient constriction, indexed by the minimal pupil size during the 1-s light pulse, was similar between groups for both red and blue light. The blue light-specific PIPR was significantly attenuated in patients.
DISCUSSION: The findings point to altered retinal light sensitivity in FD with a hypofunctional ipRGC system. This suggests an impact of the disease beyond movement-related neuronal systems.
METHODS: Quantitative chromatic pupillometry was performed in 26 persons with FD and 20 age-/sex-matched healthy controls. Upon dark adaptation, standardized red (632 nm) and blue (462 nm) light pulses (100 cd/m2) were delivered to the pupils. Constrictions were recorded one and 6 s after the stimuli. The 1s-constriction is rod/cone-mediated, whereas the post illumination pupil response (PIPR) reflects the melanopsin-related activity of intrinsic photosensitive retinal ganglion cells (ipRGC) to blue light only.
RESULTS: Compared with controls, dystonia patients did not differ in baseline pupil diameter prior to red-light stimulation. Peak transient constriction, indexed by the minimal pupil size during the 1-s light pulse, was similar between groups for both red and blue light. The blue light-specific PIPR was significantly attenuated in patients.
DISCUSSION: The findings point to altered retinal light sensitivity in FD with a hypofunctional ipRGC system. This suggests an impact of the disease beyond movement-related neuronal systems.