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Gaucher disease--Norrbottnian type. Ocular abnormalities.

A Erikson, I Wahlberg

    Acta Ophthalmologica
    |April 1, 1985
    PubMed
    Summary

    Norrbottnian type Gaucher disease often causes ocular issues, including gaze abnormalities and squint, in children. Retinal infiltrates and myopia were also observed, but generally not linked to disease severity.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Neurology

    Background:

    • Gaucher disease is a rare lysosomal storage disorder.
    • The Norrbottnian type (GD III) has unique clinical manifestations.
    • Ocular complications in Gaucher disease are not fully characterized.

    Purpose of the Study:

    • To describe the spectrum of ocular abnormalities in patients with Norrbottnian type Gaucher disease.
    • To investigate potential correlations between ocular findings and disease severity.

    Main Methods:

    • Retrospective review of 22 patients diagnosed with Norrbottnian type Gaucher disease.
    • Ophthalmological examinations including assessment of ocular motility, strabismus, and retinal findings.
    • Correlation analysis between ocular abnormalities and clinical disease parameters.

    Main Results:

    • Ten patients (45%) exhibited horizontal gaze abnormalities resembling congenital ocular motor apraxia within the first decade of life.
    • Supranuclear oculomotor disturbances were noted in several patients.
    • Thirteen patients (59%) had strabismus due to abducens muscle weakness. White retinal infiltrates were observed in 8/21 (38%) patients, often post-splenectomy. Myopia was present in 8/19 (42%) patients. Ocular abnormalities, apart from retinal changes, showed no clear link to disease severity.

    Conclusions:

    • Norrbottnian type Gaucher disease is associated with a high prevalence of specific ocular abnormalities, particularly gaze palsies and strabismus.
    • Retinal infiltrates and myopia are additional ocular manifestations.
    • Most ocular findings are not directly correlated with the overall severity of Gaucher disease, except possibly retinal changes.

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