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Pattern evoked potentials in phenylketonuria.

D Creel, B A Buehler

    Electroencephalography and Clinical Neurophysiology
    |February 1, 1982
    PubMed
    Summary
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    Phenylketonuria (PKU) does not cause optic misrouting in humans, despite hypopigmentation. Visual evoked potentials in PKU patients showed normal development, indicating sufficient pigment for normal optic nerve development.

    Area of Science:

    • Neuroscience
    • Ophthalmology
    • Genetics

    Background:

    • Untreated phenylketonuria (PKU) is associated with hypopigmentation.
    • Hypopigmentation in PKU may suggest potential abnormalities in optic pathways due to altered melanin synthesis.
    • Optic pathway development is crucial for visual function and can be influenced by early developmental factors.

    Purpose of the Study:

    • To investigate whether untreated phenylketonuria (PKU) leads to misrouted optic projections.
    • To assess the integrity of visual pathways in individuals with PKU using neurophysiological methods.
    • To determine if visual evoked potentials in PKU patients differ from normal patterns.

    Main Methods:

    • Six individuals with phenylketonuria (PKU) underwent testing using scalp-recorded evoked potentials.

    Related Experiment Videos

  • Both pattern reversal and pattern onset/offset visual stimuli were employed.
  • Testing included binocular and monocular stimulation conditions to evaluate each eye's contribution.

    • Main Results:

    • Evoked potentials showed normal form and hemispheric symmetry in 5 out of 6 PKU individuals under all stimulation conditions.
    • One individual exhibited a minor, likely idiosyncratic, hemispheric asymmetry with left eye stimulation only.
    • No evidence of optic misrouting was detected in the PKU cohort.

    Conclusions:

    • The study found no detectable optic misrouting in individuals with phenylketonuria (PKU).
    • Tyrosine and melanin availability during early development appear sufficient for normal optic nerve decussation, even without phenylalanine hydroxylase activity.
    • Visual evoked potentials suggest normal visual pathway development in PKU, refuting concerns of misrouted optic projections.