rss
Br J Ophthalmol 2005;89:773-774 doi:10.1136/bjo.2004.057554
  • Letter

Vitreous amyloidosis in alanine 71 transthyretin mutation

  1. H J Zambarakji1,
  2. D G Charteris1,
  3. W Ayliffe2,
  4. P J Luthert3,
  5. F Schon4,
  6. P N Hawkins5
  1. 1Moorfields Eye Hospital, Vitreoretinal Service, London, UK
  2. 2Mayday University Hospital, Ophthalmology Department, London, UK
  3. 3Institute of Ophthalmology, Pathology Department, London, UK
  4. 4Mayday University Hospital, Neurology Department, London, UK
  5. 5National Amyloidosis Centre, Department of Medicine, Royal Free and University College Medical School, London, UK
  1. Correspondence to: Dr H Zambarakji Angiogenesis, Massachusetts Eye and Ear Infirmary, 325 Cambridge Street, Boston, MA 02114, USA; hzambarajiaol.com or HZmeei.harvard.edu
  • Accepted 20 October 2004

Familial amyloid polyneuropathy (FAP) associated with mutations in the transthyretin (TTR) gene is the commonest form of hereditary amyloidosis. The incidence of vitreous opacities in FAP varies from 5.4% to 35%,1,2 but vitreous opacities as part of systemic amyloidosis are virtually pathognomonic of FAP. Hereditary non-neuropathic systemic amyloidosis is associated with mutations in the genes for lysosyme, apolipoprotein A-I, or fibrinogen A α-chain. There are some 80 known mutations in TTR gene of which the methionine 30 variant is the most common.3 The rare alanine 71 (Ala 71) variant with vitreous opacities has been described in one family from France and another from Spain.4,5 We report a case of FAP Ala 71 without a family history of the disease who presented with a monocular inferior visual field defect and a corresponding vitreous opacity. Amyloid deposition was subsequently diagnosed on vitreous and sural nerve biopsy.

Case report

A 46 year old woman …

[Full text of this article]

This Article

  1. Extract
  2. Full text
  3. PDF

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.