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Clinical Case Notes

Woman with atypical unilateral Leber's hereditary optic neuropathy with visual improvement

Authors

  • Eiko Sugisaka MD,

    1. Department of Ophthalmology, Keio University School of Medicine,
    2. Yokohama Municipal Citizen's Hospital, Kanagawa, Japan
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  • Hisao Ohde MD,

    1. Department of Ophthalmology, Keio University School of Medicine,
    2. Laboratory of Visual Physiology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center,
    3. Kamoshita Eye Clinic, Tokyo, and
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  • Kei Shinoda MD,

    1. Department of Ophthalmology, Keio University School of Medicine,
    2. Laboratory of Visual Physiology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center,
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  • Yukihiko Mashima MD

    1. Department of Ophthalmology, Keio University School of Medicine,
    2. Kamoshita Eye Clinic, Tokyo, and
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Abstract

We describe a patient with Leber's hereditary optic neuropathy (LHON) who had a unilateral involvement and a gradual recovery of vision. A 50-year-old woman was referred to our clinic in December 2004 for the treatment of left optic neuritis. The visual acuity was 0.01 in her left eye and 1.5 in her right eye. The left eye had a central scotoma and a relative afferent pupillary defect. Ophthalmoscopy revealed a hyperaemic optic disc with indistinct margins in the left eye. Fluorescein angiography showed circumpapillary microangiopathy in both eyes and staining of the left optic disc. An nt 11778 mutation was identified and she was diagnosed with LHON. The central scotoma gradually improved, and the visual acuity had recovered to 0.3 in August 2007. LHON should still be considered even in older female patients presenting with unilateral acute visual loss when microangiopathy is seen. In such cases, molecular testing is effective in confirming a diagnosis of LHON.

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