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

Mohd Khialdin S 1 , Grigg J 2 , Rowe N 1 , Crofts S 3 , Wilson M 4 , Troedson C 5

Affiliations 

  • 1 Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, NSW, Australia
  • 2 Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, NSW, Australia. [email protected]
  • 3 Save Sight Institute, Discipline of Ophthalmology, University of Sydney, 8 Macquarie St., Sydney, NSW, 2001, Australia
  • 4 Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia
  • 5 Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia
Documenta ophthalmologica. Advances in ophthalmology, 2015 Dec;131(3):215-20.
PMID: 26396085 DOI: 10.1007/s10633-015-9511-0

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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