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Anti-aquaporin-4 antibody-positive familial neuromyelitis optica in mother and daughter

  • Clinical Investigation
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Abstract

Background

Cases of anti-aquaporin (AQP)-4 antibody-positive familial neuromyelitis optica (NMO) in mothers and daughters are described.

Participants

The demographic, clinical, neuroimaging, and anti-AQP-4 antibody status were investigated in four patients from two Asian families with anti-AQP-4 antibody-positive NMO.

Observations

NMO was diagnosed in both mothers and daughters using the latest diagnostic criteria. All patients were anti-AQP-4 antibody-positive, and only one had an autoimmune background. The Japanese family presented with a poor visual outcome due to multiple occurrences of optic neuritis, whereas the Korean family presented with a good visual outcome. Disease onset occurred at different ages, even within the same family.

Conclusions

These cases may enhance the understanding of the genetic contribution to NMO. Our findings suggest that familial history must be carefully examined in patients with NMO.

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Acknowledgments

The authors thank Dr. Shigeki Yamaguchi, Department of Neurology, Yokohama Municipal Citizen’s Hospital and Dr. Hiroyuki Nozaki, Department of Neurology, Kawasaki Municipal Kawasaki Hospital, for providing magnetic resonance images.

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Authors and Affiliations

  1. Department of Ophthalmology, Jikei University School of Medicine, 3-25-8 Nishishimbashi, Minato-ku, Tokyo, 105-8461, Japan

    Shoyo Yoshimine, Tsutomu Sakai, Mikihide Ogasawara, Keigo Shikishima & Hiroshi Tsuneoka

  2. Department of Neurology, Kanazawa Medical University, Ishikawa, Japan

    Keiko Tanaka

Authors
  1. Shoyo Yoshimine
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  2. Tsutomu Sakai
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  3. Mikihide Ogasawara
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  4. Keigo Shikishima
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  5. Hiroshi Tsuneoka
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  6. Keiko Tanaka
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Corresponding author

Correspondence to Tsutomu Sakai.

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Cite this article

Yoshimine, S., Sakai, T., Ogasawara, M. et al. Anti-aquaporin-4 antibody-positive familial neuromyelitis optica in mother and daughter. Jpn J Ophthalmol 55, 647–650 (2011). https://doi.org/10.1007/s10384-011-0086-3

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  • DOI: https://doi.org/10.1007/s10384-011-0086-3

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