The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case

Sarah E. Martin, Merrill D. Benson, Eyas M. Hattab

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

We report the clinical and postmortem pathologic features of a 60-year-old woman with oculoleptomeningeal amyloidosis with a Val30Gly transthyretin gene mutation. Unlike other forms of hereditary amyloidosis, this rare type displays amyloid deposition predominantly in the eyes and central nervous system. Our patient belongs to 1 of only 2 kindreds known to carry this transthyretin mutation. Previous reports focused on examination of the brain and spinal cord, largely ignoring postmortem examination of the eyes. In this case, autopsy examination revealed amyloid deposition in the leptomeninges surrounding the brain, spinal cord, and optic nerves. Subependymal amyloid deposits projecting into the lateral ventricles as well as amyloid deposition in the choroid plexus, retinal vessels, nerve fiber layer of the retina, and vitreous were observed. Amyloid was not identified elsewhere in the body. Awareness of this rare form of hereditary amyloidosis is crucial, given the substantial genetic and therapeutic implications of the diagnosis. Oculoleptomeningeal amyloidosis can be easily diagnosed during life with vitreous biopsy, as was the case in our patient.

Original languageEnglish (US)
Pages (from-to)1105-1108
Number of pages4
JournalHuman pathology
Volume45
Issue number5
DOIs
StatePublished - May 2014

Keywords

  • Amyloidosis
  • Hereditary amyloidosis
  • Postmortem examination
  • Transthyretin

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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