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[Objective] The hallmark of neuronopathic Gaucher disease (nGD) is oculomotor abnormalities. The saccadic initiation failure (SIF) is well known, whereas assessment of SIF is difficult when examining uncooperative patients. While chromatic pupillometry is known as an objective method for evaluate the pupillary lightreflex (PLR), it has not been studied yet. In this study, we assessed the PRL with chromatic pupillometry to evaluate its utility for detection of neurological feature and therapeutic response of chaperone therapy in nGD.[Methods] Ten GD patients (1 GD1,5 GD2, and 4 GD3 patients) and 35 healthy controls were enrolled. All GD patients underwent enzyme replacement therapy (ERT) prior to PRL examination. After PRL examination, 5 patients (2 GD2 and 3 GD3 patients) received chaperone therapy (ambroxol: ABX) combined with ERT. A binocular infrared pupillometer, Iriscoder Dual C10641 (Hamamatsu Photonics,Hamamatsu, Japan) was used, and blue and red stimuli of 100 cd/m2 were selected in this study. [Results] In nGD, red light-induced PLR was markedly impaired,whereas blue light-induced PLR was relatively spared. In contrast, GD1 patient had no abnormalities. Combined ERT and ABX therapy has resulted in a marked improvementof red light-induced PLR for all treated patients.[Conclusions] NGD patients have PLR impairments, and chromatic pupillometry appears to be a useful method for evaluating such patients,regardless of age or neurocognitive status. Further studies are required to investigate the possibility of using PRL as a new marker for early detection and for monitoring the course of disease and response to treatment.

neuronopatic Gaucher disease, Pupillary Light Reflex, Chaperone therapy