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Related Experiment Videos

Retinal involvement in Morquio's syndrome (MPS IV).

M E Dangel, B H Tsou

    Annals of Ophthalmology
    |June 1, 1985
    PubMed
    Summary

    This study reports the first case of retinal abnormalities in Morquio's syndrome, a rare genetic disorder. Findings suggest mild, progressive retinal changes may appear in older individuals with this condition.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Metabolic Disorders

    Background:

    • Pigmentary retinal degeneration is a known feature in several types of mucopolysaccharidoses (MPS).
    • Retinal involvement had not been previously documented in Morquio's syndrome (MPS IV).

    Observation:

    • A 43-year-old patient with Morquio's syndrome presented with ophthalmoscopic and electrophysiologic abnormalities.
    • The patient exhibited arteriolar narrowing, increased photopic b-wave implicit time, and decreased scotopic b-wave amplitude.
    • An electro-oculogram (EOG) revealed slightly abnormal results.

    Findings:

    • This case represents the first documented instance of retinal abnormalities in Morquio's syndrome.
    • The patient, at 43, is the oldest individual with Morquio's syndrome to undergo electrophysiologic testing.
    • Electrophysiologic results indicate potential visual pathway dysfunction.

    Implications:

    • Retinal involvement in Morquio's syndrome may be mild but progressive.
    • These changes might not be apparent in younger patients but become detectable in older individuals.
    • This highlights the importance of ophthalmologic screening in long-term management of Morquio's syndrome.

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