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Disturbed visual system function in methionine synthase deficiency.

Charlotte M Poloschek1, Brian Fowler, Renate Unsold

  • 1Department of Paediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany. charlotte.poloschek@klinik.uni-regensburg.de

Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
|June 3, 2005
PubMed
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Methionine synthase deficiency causes severe vision impairment due to elevated homocysteine. This study reveals reduced retinal function and potential neuronal damage in the visual pathway, explaining vision loss in cblG defects.

Area of Science:

  • Ophthalmology
  • Neurology
  • Biochemistry

Background:

  • Isolated functional methionine synthase deficiency (cblG defect) causes elevated homocysteine and neurological issues.
  • Visual system impairment, including reduced acuity and nystagmus, is a known clinical feature but its origin is unclear.
  • This study investigates the visual system in a patient with cblG defect.

Observation:

  • Ganzfeld electroretinograms (ERG) and flash visual evoked potentials (VEP) were recorded over four years.
  • ERG revealed significantly reduced amplitudes in rod and cone responses, oscillatory potentials, and flicker responses.
  • VEPs were severely deformed but reproducible, indicating visual pathway dysfunction.

Findings:

  • Subnormal ERG amplitudes persisted throughout the follow-up period.

Related Experiment Videos

  • Prolonged implicit times were observed in some ERG components.
  • Pathological VEPs suggest neuronal damage in the visual pathway.

    • Implications:

    • Reduced oscillatory potentials suggest homocysteine-induced microvascular damage in the retina.
    • Decreased photoreceptor function and ganglion cell loss may result from homocysteine's cytotoxic effect on visual neurons.
    • These findings elucidate the pathogenesis of visual impairment in methionine synthase deficiency.