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  • Characterisation and management of vitreous and nerve amyloid in familial amyloid polyneuropathy due to variant transthyretin, Phe33Val

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Characterisation and management of vitreous and nerve amyloid in familial amyloid polyneuropathy due to variant transthyretin, Phe33Val
  1. Maria Elena Gregory1,
  2. Martyn Carey2,
  3. Philip Nigel Hawkins3,
  4. Somnath Banerjee4,
  5. Julian David Gillmore3
  1. 1
    Ophthalmology Department, Gartnavel General Hospital, Glasgow, UK
  2. 2
    Cellular Pathology, The Medical School, University of Birmingham, Birmingham, UK
  3. 3
    National Amyloidosis Centre, Centre for Amyloidosis & Acute Phase Proteins, Department of Medicine, University College London, London, UK
  4. 4
    Ophthalmology Department, Leicester Royal Infirmary, Infirmary Square, Leicester, UK
  1. Dr Maria Elena Gregory, Ophthalmology Department, Gartnavel General Hospital, 1053 Great Western Road, Glasgow G12 0YN, UK; gregoryme25{at}yahoo.co.uk

https://doi.org/10.1136/bjo.2007.124123

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    A 48-year-old British Caucasian male, presented aged 45 with progressive peripheral and autonomic neuropathy. There was a 2 year history of bilateral veil-like floaters. His mother had died of FAP aged 67 years. Three siblings and two daughters were fit and well.

    Cardiovascular and systemic examinations were normal. Neurological assessment revealed symmetrical sensorimotor polyneuropathy, and bilateral carpal tunnel syndrome. Visual …

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    Footnotes

    • aNational Amyloidosis Centre, Centre for Amyloidosis & Acute Phase Proteins, Department of Medicine, University College of London, Hampstead Campus, London NW3 2PF, United Kingdom.

    • bCellular Pathology, The Medical School, University of Birmingham, Birmingham, UK

    • Funding: None.

    • Competing interests: None declared.

    • Attribution of work to: Ophthalmology Department, Leicester Royal Infirmary, and National Amyloidosis Centre, London.

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      BMJ Publishing Group Ltd.BMA House, Tavistock Square, London, WC1H 9JR
      British Journal of Ophthalmology 2007; 92 142-142 Published Online First: 21 Dec 2007. doi: 10.1136/bjo.2007.124123a