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

Safinaz Mohd Khialdin, John Grigg, Neil Rowe, Stephanie Crofts, Meredith Wilson, Christopher Troedson

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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. Method: 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.

Original languageEnglish
Pages (from-to)215-220
Number of pages6
JournalDocumenta Ophthalmologica
Volume131
Issue number3
DOIs
Publication statusPublished - 1 Dec 2015

Fingerprint

Electrophysiology
Retinal Dystrophies
Phosphoglycerate Kinase
Transplants
Vertebrate Photoreceptor Cells
Inborn Genetic Diseases
Visual Evoked Potentials
Brain Diseases
Hemolysis
Bone Marrow
Mothers
Phosphoglycerate Kinase 1 Deficiency
Parturition
Mutation
Genes

Keywords

  • Phosphoglycerate kinase deficiency
  • Retinal dystrophy
  • Visual electrophysiology

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Physiology (medical)

Cite this

A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency : a visual electrophysiology report. / Mohd Khialdin, Safinaz; Grigg, John; Rowe, Neil; Crofts, Stephanie; Wilson, Meredith; Troedson, Christopher.

In: Documenta Ophthalmologica, Vol. 131, No. 3, 01.12.2015, p. 215-220.

Research output: Contribution to journalArticle

Mohd Khialdin, Safinaz ; Grigg, John ; Rowe, Neil ; Crofts, Stephanie ; Wilson, Meredith ; Troedson, Christopher. / A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency : a visual electrophysiology report. In: Documenta Ophthalmologica. 2015 ; Vol. 131, No. 3. pp. 215-220.
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