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









