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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

https://doi.org/10.1136/bjo.2004.057554

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    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 …

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