Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements |
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| Affiliation: | 1. Department of Applied Behavioral Science, University of Kansas, 4050 Dole Developmental Center, 1000 Sunnyside Ave., Lawrence, KS 66045, USA;2. Center for Children’s Healthy Lifestyles & Nutrition, Children’s Mercy Hospital, 610 E. 22nd St., Kansas City, MO, 64108, USA;3. Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS, 66160, USA;4. Health Services and Outcomes Research, Children’s Mercy Hospital and Clinics, University of Missouri − Kansas City, 2401 Gillham Road 610, Kansas City, MO, 64108, USA;5. Department of Psychology, University of Missouri, 5030 Cherry St., Kansas City, MO 64110, USA;6. Kessler Foundation, West Orange, NJ, 07052, USA;1. Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, Milan, Italy;2. Department of Biology and Biotechnologies, University of Pavia, Pavia, Italy;3. Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy;4. Department of Biosciences, University of Milan, Milan, Italy;5. Department of Neurology, University of Milan, IRCCS-Policlinico San Donato, Milan, Italy;1. Department of Neurosurgery, Shiraz University of Medical Sciences, Shiraz, Iran;2. Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran;3. Orthopedic Surgery Department, Shiraz University of Medical Sciences, Shiraz, Iran;1. Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children’s Research Hospital, Rome, Italy;2. Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland;3. Pediatric Neurology Unit, Catholic University School of Medicine, Rome, Italy;4. Institute of Neurology, Catholic University School of Medicine, Rome, Italy;5. Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland;6. Neurology Department, Vaasa Central Hospital, Vaasa, Finland;1. Division of Paediatric Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia;2. Paediatric Neurology Unit, Yangon Children Hospital, Yangon, Myanmar;3. Division of Paediatric Neurology, National Brain Centre, East Jakarta, Jakarta, Indonesia;4. Division of Paediatric Intensive Care, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia;5. Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia |
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| Abstract: | Glycogen storage disease type II (Pompe disease) affects mainly proximal skeletal muscles. Despite older histological evidence of extraocular muscle involvement, ocular motor palsies or other eye movement abnormalities are not considered part of the clinical picture.We investigated the dynamics of saccadic eye movements of five patients suffering from late-onset Pompe disease and compared their performance to that of age matched healthy controls. Horizontal rightward and leftward saccades were recorded binocularly, while subjects looked at LED targets placed at ±5°, 10° and 15° eccentricities.No differences in saccade amplitudes, peak velocities or durations were observed between controls and patients. More specifically, for 5° saccades, patients had a mean peak velocity of 146°/s with duration of 76 ms. For 10° and 15° saccades these values were 258°/s, 86 ms and 324°/s, 101 ms respectively, thereby lying well within one standard deviation of the mean of normal data. Moreover, saccadic amplitude accuracy was also unimpaired.These results indicate that patients with late onset Pompe disease perform fast and accurate horizontal saccades without evidence of muscle paresis or other ocular motor abnormalities. Reported histological abnormalities of extraocular muscles do not appear to have a phenotypic impact. |
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| Keywords: | Pompe disease Eye movements Saccades Extraocular muscles Neuroophthalmology |
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