title: Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.
abstract: 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.
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Narita
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
authors.forename: Kentarou
authors.initials: K
authors.lastname: Shirai
authors.affiliation: Department of Pediatrics, National Hospital Organization Matsue Medical Center Shimane, Japan.
authors.forename: Norika
authors.initials: N
authors.lastname: Kubota
authors.affiliation: Department of Clinical Research, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders Shizuoka, Japan.
authors.forename: Rumiko
authors.initials: R
authors.lastname: Takayama
authors.affiliation: Department of Clinical Research, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders Shizuoka, Japan.
authors.forename: Yukitoshi
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine Yamagata, Japan.
authors.forename: Takanori
authors.initials: T
authors.lastname: Onuki
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine Yamagata, Japan.
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine Yamagata, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine Osaka, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Hamada
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine Osaka, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.affiliation: Department of Pediatric Neurology, Aichi Children's Health and Medical Center Aichi, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Ohno
authors.affiliation: Department of Pediatrics, School of Medicine, Iwate Medical University Morioka, Japan.
authors.forename: Maya
authors.initials: M
authors.lastname: Asami
authors.affiliation: Department of Pediatrics, School of Medicine, Iwate Medical University Morioka, Japan.
authors.forename: Shoko
authors.initials: S
authors.lastname: Matsushita
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children Shiga, Japan.
authors.forename: Anri
authors.initials: A
authors.lastname: Hayashi
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children Shiga, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kumada
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children Shiga, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fujii
authors.affiliation: Department of Pediatric Neurology, Children's Medical Center, Osaka City General Hospital Osaka, Japan.
authors.forename: Asako
authors.initials: A
authors.lastname: Horino
authors.affiliation: Department of Pediatric Neurology, Children's Medical Center, Osaka City General Hospital Osaka, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Inoue
authors.affiliation: Department of Pediatric Neurology, Children's Medical Center, Osaka City General Hospital Osaka, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kuki
authors.affiliation: Department of Orthoptics and Visual Sciences, Kitasato University School of Allied Health Sciences Kanagawa, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Asakawa
authors.affiliation: Department of Orthoptics and Visual Sciences, Kitasato University School of Allied Health Sciences Kanagawa, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ishikawa
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
authors.forename: Koyo
authors.initials: K
authors.lastname: Ohno
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Nishimura
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Tamasaki
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
authors.affiliation: Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine Yonago, Japan.
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno