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Familial vitreous amyloidosis linked with factor V Leiden deficiency
  1. I Moortgat,
  2. R Van Ginderdeuren,
  3. J Van Calster
  1. University Hospitals Leuven, Leuven, Belgium
  1. Correspondence to Joachim Van Calster, Capucijnenvoer 33, 3000 Leuven, Belgium; joachim.vancalster{at}uzleuven.be

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Case report

A 52-year-old Caucasian woman presented with a 2-year history of floaters in her right eye and severe diminished vision for 2 months. She was treated several times with corticosteroids without success for uveitis. Visual acuity was 0.3 in the right eye and 0.8 in the left. There were no signs of inflammation, and the anterior segment examination result was normal. Fundus examination showed dense vitreous opacities with strings and dots. Fluorescein angiography revealed a normal fluorescence pattern without oedema and with no obvious vasculitis or choroiditis. Pathologic examination of a diagnostic vitrectomy confirmed amyloid. The general examination result was negative for systemic amyloidosis, but a hereditary heterozygote deficiency of factor V Leiden was found. One year later, a vitrectomy was performed on the left eye, and vitreous amyloidosis was confirmed. At this moment, her visual acuity is 1.0 on both eyes.

She has two sisters (59- and 51-year-old) and 1 brother (58-year-old) with the same condition. A diagnostic vitrectomy confirmed vitreous amyloidosis, and they were also found to be …

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