A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report

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• 作者：Safinaz Mohd Khialdin ; John Grigg ; Neil Rowe ; Stephanie Crofts…
• 关键词：Phosphoglycerate kinase deficiency ; Visual electrophysiology ; Retinal dystrophy
• 刊名：Documenta Ophthalmologica
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：131
• 期：3
• 页码：215-220
• 全文大小：925 KB
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• 作者单位：Safinaz Mohd Khialdin (1) (2)
  John Grigg (1) (3)
  Neil Rowe (1)
  Stephanie Crofts (3) (4)
  Meredith Wilson (5)
  Christopher Troedson (6)
  
  1. Department of Ophthalmology, The Children鈥檚 Hospital at Westmead, Westmead, NSW, Australia
  2. Department of Ophthalmology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Center, 56000, Cheras, Malaysia
  3. Save Sight Institute, Discipline of Ophthalmology, University of Sydney, 8 Macquarie St., Sydney, NSW, 2001, Australia
  4. Department of Orthoptics, The Children鈥檚 Hospital at Westmead, Westmead, NSW, Australia
  5. Department of Clinical Genetics, The Children鈥檚 Hospital at Westmead, Sydney, NSW, Australia
  6. Department of Neurology and Neurosurgery, The Children鈥檚 Hospital at Westmead, Westmead, NSW, Australia
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Ophthalmology
  
• 出版者：Springer Netherlands
• ISSN：1573-2622

文摘

Purpose Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye.