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[Leber's optic atrophy - an interdisciplinary study (author's transl)].

A Müller-Jensen, W Bushart, J Steidinger

    Klinische Monatsblatter Fur Augenheilkunde
    |January 1, 1978
    PubMed
    Summary
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    Leber's optic atrophy is a hereditary neuro-ophthalmological condition affecting males in this family across four generations. Findings suggest genetic factors contribute to this optic nerve disease.

    Area of Science:

    • Neuro-ophthalmology
    • Medical Genetics
    • Clinical Neurology

    Context:

    • Describes a family with multiple affected members exhibiting Leber's optic atrophy.
    • Observations span four generations, encompassing approximately 100 individuals.

    Purpose:

    • To present clinical, electrophysiological, ophthalmological, and genetic findings in a family with Leber's optic atrophy.
    • To discuss the genetic factors underlying this hereditary neuro-ophthalmological condition.

    Summary:

    • Six male subjects, identified as potential carriers, were manifestly affected within the family.
    • Abnormal electroencephalograms (EEGs) were common, with less frequent occurrences of color vision disturbances.
    • The study highlights optic atrophy as the predominant symptom of this systemic condition.

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    Impact:

    • Suggests Leber's optic atrophy is a hereditary systemic neuro-ophthalmological disorder.
    • Emphasizes the significant role of genetic factors in the condition's inheritance pattern.
    • Provides valuable data for understanding the clinical and genetic spectrum of Leber's optic atrophy.