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Corneal ultrastructural changes in Fabry's disease.

J François, M Hanssens, H Teuchy

    Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde
    |January 1, 1978
    PubMed
    Summary
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    This case report details corneal changes in Fabry disease, identifying intracellular inclusions linked to visual symptoms. Further research is needed to understand the cause of whorl-like opacities.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Cell Biology

    Background:

    • Fabry disease is a rare genetic lysosomal storage disorder.
    • Corneal manifestations are common in Fabry disease, often presenting as characteristic opacities.

    Observation:

    • This report describes a case of Fabry disease with detailed light and electron microscopy of corneal alterations.
    • Specific focus on intracellular osmiophilic inclusions within the corneal epithelium.

    Findings:

    • Diffuse corneal haziness is associated with small intracellular osmiophilic inclusions in the corneal epithelium.
    • Newly described giant inclusions in the corneal epithelium correlate with punctiform grey opacities.
    • The exact pathogenesis of the characteristic whorl-like opacities in Fabry disease remains undetermined.

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    Implications:

    • Microscopic findings provide insights into the cellular mechanisms underlying corneal changes in Fabry disease.
    • Understanding these inclusions may aid in diagnosing and managing Fabry disease patients.
    • Further investigation into the pathogenesis of corneal opacities is warranted for comprehensive Fabry disease management.