A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid

Joel M. Solano, Jose S. Pulido, Diva R. Salomao

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Amyloidosis is a term to describe extracellular deposition of insoluble beta-fibrillar proteins. Here we describe a patient who was confirmed to have amyloidosis after right heart biopsy and was found to have DNA change 114T > A (codon change D18E). Ophthalmic examination showed increasing vitreous sheet-like opacities in the left eye and she subsequently underwent vitrectomy. The vitrectomy specimen was confirmed to have amyloid involvement. To our knowledge this is the first report of vitreous involvement of a patient with the Asp18Glu mutation of the transthyretin (TTR) gene with DNA change 114T > A.

Original languageEnglish (US)
Pages (from-to)73-75
Number of pages3
JournalOphthalmic Genetics
Volume28
Issue number2
DOIs
StatePublished - Apr 1 2007

Keywords

  • Amyloid
  • Transthyretin (TTR) gene
  • Vitreous

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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