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Ann Clin Transl Neurol. 2014 Feb;1(2):135-40. doi: 10.1002/acn3.33. Epub 2014 Feb 4.

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.

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Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
Department of Pediatrics, National Hospital Organization Matsue Medical Center Shimane, Japan.
Department of Clinical Research, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders Shizuoka, Japan.
Department of Pediatrics, Yamagata University School of Medicine Yamagata, Japan.
Department of Pediatrics, Osaka University Graduate School of Medicine Osaka, Japan.
Department of Pediatric Neurology, Aichi Children's Health and Medical Center Aichi, Japan.
Department of Pediatrics, School of Medicine, Iwate Medical University Morioka, Japan.
Department of Pediatrics, Shiga Medical Center for Children Shiga, Japan.
Department of Pediatric Neurology, Children's Medical Center, Osaka City General Hospital Osaka, Japan.
Department of Orthoptics and Visual Sciences, Kitasato University School of Allied Health Sciences Kanagawa, Japan.


The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD. In our neuronopathic GD patients, red light-induced PLR was markedly impaired, whereas blue light-induced PLR was relatively spared. In addition, patients with non-neuronopathic GD showed no abnormalities. These novel findings show that chromatic pupillometry is a convenient method to detect neurological signs and monitor the course of disease in neuronopathic GD.

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