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Expanding the phenotype of MOG antibody-associated disease (MOGAD): half a century of epilepsy and relapsing optic neuritis
  1. Iris Kleerekooper1,2,3,
  2. Sachid Anand Trip1,3,
  3. Gordon T Plant2,3,
  4. Axel Petzold2,3,4
  1. 1 Department of Neuroinflammation, University College London, London, UK
  2. 2 Department of Neuro-ophthalmology, National Hospital for Neurology and Neurosurgery, London, London, UK
  3. 3 Dept of Neuro-ophthalmology, UCLH NHNN, UCL ION, Queen Square, Moorfields Eye Hospital, City Road Campus, London, UK
  4. 4 Dept of Neuro-ophthalmology, Amsterdam UMC Locatie VUmc, Amsterdam, Noord-Holland, The Netherlands
  1. Correspondence to Dr Axel Petzold, UCLH NHNN, UCL ION, Queen Square, Moorfields Eye Hospital City Road Campus, London WC1E 6BT, UK; a.petzold{at}

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Autoimmune disease has opened a field for the discovery of new phenotypes in clinical neurology. The unravelling of the autoimmune pathophysiology has led to successful novel treatment strategies including long-term immune suppression.1 In myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), damage to the central nervous system is attack related.2 The clinical phenotype of MOGAD is heterogenous and expanding. Here we illustrate a new phenomenon in a MOGAD-seropositive patient whom we have followed-up for 48 years: the synchronisation of relapsing, steroid responsive epilepsy and optic neuritis (ON). The long-term follow-up with repeated imaging, electrodiagnostic and laboratory tests of blood and cerebrospinal fluid permits to exclude with confidence that this phenotype is due to the more commonly described association of seizure activity with ON in acute encephalitis.3

The 69-year-old woman with relapsing ON reports the attacks to be often preceded by a cluster of seizures. Forty-eight years ago, she was diagnosed with epilepsy (1973, figure 1A). The pattern of epilepsy evolved and presently she has strictly nocturnal, complex partial seizures of left frontal lobe onset, with occasional tongue biting and/or brief jerking of all limbs. The following day she is fatigued, but she has never been encephalopathic. She also suffers from periodic limb movements during sleep that rouse her with sleep paralysis. Repeated electroencephalograms and polysomnography consistently demonstrated a possible left temporal epileptogenic zone. Repeated CT and MR brain imaging were normal. Her epilepsy was treatment refractory to carbamazepine despite being compliant and repeated blood levels being in the therapeutic range. Her seizure frequency remained at three to four times per month for almost 20 years. Seizure frequency reduced, however, to 3–5 per year up to the present time after treatment with corticosteroids was started because of left relapsing ON (1991, …

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  • Contributors AP: study design; laboratory work. AP and IK: data collection; manuscript writing. IK, AT, GTP and AP: data analyses and interpretation. All co-authors: manuscript revisions.

  • Funding This study was approved by Moorfields Eye Hospital R&D (study number CaRS_PETA_01) and the patient has given written informed consent for publication. Iris Kleerekooper thanks the ECTRIMS for their support through the Postdoctoral International Research Fellowship. S Anand Trip receives support from the National Institute for Health Research (NIHR) Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and University College London. AP was supported by the NIHR Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology.

  • Disclaimer The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.

  • Competing interests AP is a member of the steering committee for the OCTiMS study (Novartis) and ARI network (Zeiss), no consulting fees. Performs OCT QC for the Passos study (Novartis) and received consulting fees; received speaker fees from Heidelberg Engineering. IK, SAT and GTP report no disclosures.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.