Leber`s Hereditary Optic Neuropathy Associated with Multiple Sclerosis

  • Dr Susanne Winter, Department of Neurology/Neurogenetics, Royal North Shore Hospital, St Leonards, Australia
  • Dr Himesha Vandebona, Department of Neurology/Neurogenetics, Kolling Institute, University of Sydney, Royal North Shore Hospital, St Leonards, Australia
  • Dr Martin Jude, Department of Neurology, Wagga Wagga Hospital, Australia
  • Dr Carolyn Sue, Department of Neurology/Neurogenetics, Kolling Institute, University of Sydney, Royal North Shore Hospital, St Leonards, Australia

    • Objective:
    To document a case of Leber`hereditary optic neuropathy (LHON) with multiple-sclerosis-like symptoms.

    Introduction:
    LHON is a mitochondrial disorder characterized by a bilateral severe optic neuropathy associated with sudden loss of central vision. It is caused by point mutations of the mitochondrial DNA, most frequently at nucleotide position (np) 3460 in the ND1 gene, np 11778 in the ND4 gene or np 14484 in the ND6 gene. A number of patients with LHON also develop a clinical syndrome suggestive of multiple sclerosis.

    Case report:
    A 37-year-old woman was well until she developed paraesthesia in her right leg. Four months later her right eye "lost focus". Her visual symptoms were followed by paraesthesia in her fingers and gait ataxia. Cerebral MRI showed multiple high signal T2 weighted lesions in the supra and infra tentorial white matter, cervical and thoracic spinal cord. CSF showed marginally elevated protein, 24 mononuclear cells and positive oligoclonal bands. MtDNA analysis found a homoplasmic G11778A mutation in urine.
    There was a significant family history of LHON. The patient`s mother had symptoms of LHON as well as MS type symptoms and is known to have the G11778A mutation. The patient`s maternal grandmother and a maternal aunt are unaffected carriers. An uncle is blind without MS type symptoms but declined genetic testing.

    Conclusion:
    Altough rarely reported, the emergence of multiple-sclerosis-like symptoms in more than one generation has been previously documented in families with LHON. This case demonstrates that multiple sclerosis-like symptoms may be part of the spectrum of LHON.