title: A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  A case history of a nine-year-old boy with PGK deficiency is reported.
  
  
  RESULTS
  This patient was diagnosed with PGK deficiency by screening soon after birth, as his mother was a known carrier of a PGK gene mutation. A bone marrow transplant was performed at the age of 9 months. He had two episodes of encephalopathy following the transplant but no acute episode of haemolysis. From the age of 6 years, his vision has been deteriorating. Visual electrophysiology results identified retinal involvement involving both rod and cone dysfunction. The visual evoked potential was normal.
  
  
  CONCLUSIONS
  Retinal dystrophy may be one of the clinical manifestations of phosphoglycerate kinase deficiency.
authors.affiliation: Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, NSW, Australia.|Department of Ophthalmology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Center, 56000, Cheras, Malaysia.
authors.forename: Safinaz
authors.initials: S
authors.lastname: Mohd Khialdin
authors.affiliation: Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, NSW, Australia. john.grigg@sydney.edu.au.|Save Sight Institute, Discipline of Ophthalmology, University of Sydney, 8 Macquarie St., Sydney, NSW, 2001, Australia. john.grigg@sydney.edu.au.
authors.forename: John
authors.initials: J
authors.lastname: Grigg
authors.affiliation: Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, NSW, Australia.
authors.forename: Neil
authors.initials: N
authors.lastname: Rowe
authors.affiliation: Save Sight Institute, Discipline of Ophthalmology, University of Sydney, 8 Macquarie St., Sydney, NSW, 2001, Australia.|Department of Orthoptics, The Children's Hospital at Westmead, Westmead, NSW, Australia.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Crofts
authors.affiliation: Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia.
authors.forename: Meredith
authors.initials: M
authors.lastname: Wilson
authors.affiliation: Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.
authors.forename: Christopher
authors.initials: C
authors.lastname: Troedson
mesh_terms: D002648:Child; D004594:Electrophysiology; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology*; D055254:Night Vision / Q000502:physiology*; D010375:Pedigree; D010735:Phosphoglycerate Kinase / Q000172:deficiency* / Q000235:genetics; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology*; D017354:Point Mutation; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000503:physiopathology*; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis / Q000503:physiopathology*
chemical_list: C577282:PGK1 protein, human; D010735:Phosphoglycerate Kinase
keywords: Phosphoglycerate kinase deficiency; Retinal dystrophy; Visual electrophysiology