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  • Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF

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Scientific report
Clinical science - Scientific reports
Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF
  1. T M O’Hearn,
  2. A Fawzi,
  3. S He,
  4. N A Rao,
  5. J I Lim
  1. Doheny Eye Institute, Keck School of Medicine, University of Southern California, California, USA
  1. Dr Jennifer I Lim, Retina Service, Eye and Ear Infirmary, University of Illinois, 1855W Taylor St, Suite 2.50, Chicago, IL 60612, USA; jennylim{at}uic.edu

Abstract

Aim: To report the early vitreous involvement in a rare familial amyloidotic polyneuropathy (FAP) mutation and associated vitreous vascular endothelial growth factor (VEGF) levels.

Design: Observational case series.

Methods: Review of clinical, pathological, photographic,

and angiographic records of two FAP siblings with severe vitreous involvement. Laboratory ELISA analysis of vitreous samples for VEGF, and DNA sequence analysis of peripheral blood for transthyretin (TTR) mutational analysis.

Results: Two patients underwent 25-gauge vitrectomy in three eyes with marked improvement of visual acuity. Neovascularisation seen intraoperatively responded to endolaser. Analysis of vitrectomy samples for VEGF showed raised levels in all three specimens. Mutational analysis revealed an isolated Glu54Gly mutation in the transthyretin gene.

Conclusions: Early involvement of the vitreous occurs in a rare transthyretin mutation of FAP, with increased vitreous levels of VEGF.

  • retina
  • amyloid
  • VEGF

http://dx.doi.org/10.1136/bjo.2007.119495

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    Footnotes

    • Competing interests: None declared.

    • Abbreviations:
      FAP

      familial amyloidotic polyneuropathy

      TTR

      transthyretin

      VEGF

      vascular endothelial growth factor