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Related Experiment Videos

Atypical drusen in pseudoxanthoma elasticum.

J Meislik, K Neldner, E B Reeve

    Annals of Ophthalmology
    |April 1, 1979
    PubMed
    Summary

    Pseudoxanthoma elasticum (PXE) patients often show angioid streaks and retinal mottling. Rock-like drusen are common in early PXE stages and appear stable over time.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissue.
    • Ocular manifestations are a significant feature of PXE, impacting vision.

    Purpose of the Study:

    • To describe the ophthalmological findings in patients with pseudoxanthoma elasticum.
    • To characterize the nature and prevalence of retinal findings, particularly drusen, in PXE.

    Main Methods:

    • Ophthalmological evaluation of 43 patients diagnosed with pseudoxanthoma elasticum.
    • Detailed fundus examination to document characteristic lesions.

    Main Results:

    • Common findings included angioid streaks and retinal pigment epithelium mottling.
    • Atypical, rock-like drusen were observed in 75% of patients, located in the posterior pole or periphery.
    • These drusen were a consistent feature, appeared stable over time, and were present even in early disease stages.

    Conclusions:

    • Rock-like drusen are an integral and early feature of the fundus appearance in pseudoxanthoma elasticum.
    • The histopathology of these specific drusen in PXE remains to be elucidated.

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