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Fabry disease: ocular manifestations

A T Franceschetti

    Birth Defects Original Article Series
    |January 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Fabry disease affects various eye structures, including the cornea, lens, and retina. Slit-lamp examination is crucial for diagnosing this condition and identifying characteristic ocular manifestations.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Rare Diseases

    Background:

    • Fabry disease is a rare genetic disorder affecting multiple organ systems.
    • Ocular manifestations are common in Fabry disease and can be diagnostically significant.

    Purpose of the Study:

    • To detail the spectrum of ocular findings in Fabry disease.
    • To emphasize the role of ophthalmological examination in diagnosis.

    Main Methods:

    • Review of typical ocular alterations observed in Fabry disease.
    • Correlation of histopathologic findings with clinical symptoms.
    • Discussion of differential diagnoses, including drug-induced opacities.

    Main Results:

    • Common findings include conjunctival and retinal vascular lesions.

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  • Characteristic corneal opacities (whirl-like) and lens spoke-like opacities are frequently observed.
  • Histopathology confirms the link between observed symptoms and the disease process.

    • Conclusions:

    • Ocular examination, particularly slit-lamp biomicroscopy, is vital for diagnosing Fabry disease.
    • Recognizing specific eye changes aids in early detection and management.
    • The discovery of similar findings in other conditions underscores the importance of differential diagnosis.