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Related Experiment Videos

Perimacular changes in Alport's syndrome

D Perrin, P Jungers, J P Grünfeld

    Clinical Nephrology
    |April 1, 1980
    PubMed
    Summary

    Perimacular changes are a reliable indicator of Alport syndrome, a genetic kidney disease. These eye findings often signal earlier onset of kidney failure in patients with this condition.

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    Area of Science:

    • Ophthalmology
    • Nephrology
    • Genetics

    Background:

    • Alport syndrome is a hereditary kidney disease characterized by progressive renal failure.
    • Ocular manifestations, including perimacular changes, can occur in Alport syndrome.
    • The association between perimacular changes and disease severity requires further investigation.

    Purpose of the Study:

    • To investigate the prevalence and significance of perimacular changes in patients with Alport syndrome.
    • To determine if perimacular changes are associated with earlier onset of renal failure.

    Main Methods:

    • Serial fundoscopic examinations were performed on 79 patients with Alport syndrome between 1962 and 1977.
    • Patients were assessed for perimacular changes, lenticonus, hearing loss, and kidney function.
    • Fluorescein angiography and kidney biopsy were utilized in a subset of patients.

    Main Results:

    • Twenty-nine patients (36.7%) exhibited symmetric bilateral perimacular changes.
    • Patients with perimacular changes had significantly earlier renal failure compared to those without (P < 0.001).
    • Perimacular changes were associated with bilateral lenticonus and neural hearing loss.

    Conclusions:

    • Perimacular changes are a simple and reliable indicator of Alport syndrome.
    • The presence of perimacular changes suggests a higher likelihood of early-onset renal failure.
    • Ophthalmic examination can aid in the diagnosis and prognosis of Alport syndrome.

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