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Ocular findings in myotonic dystrophy

C Raitta, P Karli

    Annals of Ophthalmology
    |July 1, 1982
    PubMed
    Summary

    Ophthalmologic abnormalities are common in myotonic dystrophy (MyD). This study found cataracts, hypotonia, and retinouveal affections in MyD patients, suggesting a primary cell membrane defect.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Cell Biology

    Background:

    • Myotonic dystrophy (MyD) is a multisystemic disorder with ocular manifestations.
    • Previous research indicates potential ocular complications, but comprehensive ophthalmologic assessments in MyD patients are limited.

    Purpose of the Study:

    • To investigate the spectrum of ophthalmologic findings in patients with myotonic dystrophy.
    • To correlate clinical observations with electroretinography (ERG) and fluorescein angiography findings.

    Main Methods:

    • Ophthalmologic examinations were performed on 33 patients with myotonic dystrophy.
    • Evaluations included tonography, electroretinography (ERG), and fluorescein angiography.
    • Intraocular pressure (IOP) and outflow facility were measured.

    Main Results:

    • Subcapsular cataracts were prevalent (30/33 patients).
    • Ocular hypotonia was observed in 19 of 66 eyes.
    • Focal retinouveal affections were noted in nine patients, with one case of panuveitis. ERG results varied, with some showing normal, subnormal, or isoelectric responses.

    Conclusions:

    • Ophthalmologic abnormalities, including cataracts and retinouveal lesions, are frequent in myotonic dystrophy.
    • The findings suggest a potential primary defect in cell membrane function underlying these ocular manifestations in MyD.

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