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Early onset vitreous amyloidosis in Familial Amyloidotic Polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF
  1. Thomas M. O'Hearn (tohearn{at}gmail.com),
  2. Amani A Fawzi (afawzi{at}doheny.org),
  3. Shikun He (she{at}doheny.org),
  4. Narsing A Rao (nrao{at}doheny.org),
  5. Jennifer I Lim (jlim{at}doheny.org)
  1. USC, United States
  2. Doheny Eye Institute, United States
  3. Doheny Eye Institute, United States
  4. USC, United States
  5. USC, United States

    Abstract

    Purpose: 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, pathologic, 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 acuities. Neovascularization seen intraoperatively responded to endolaser. Analysis of vitrectomy samples for VEGF revealed elevated levels in all three specimens. Mutational analysis revealed an isolated Glu54Gly mutation in the transthyretin gene.

    Conclusions: We report the early involvement of the vitreous in a rare transthyretin mutation of FAP and document increased vitreous levels of VEGF.

    • Amyloid
    • Retina
    • VEGF

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