title: Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His.
abstract: OBJECTIVE
  To describe 3 cases of oculoleptomeningeal amyloidosis (OLMA).
  
  
  METHODS
  Descriptive case series.
  
  
  METHODS
  Three siblings who presented with floaters and decreased visual acuity.
  
  
  METHODS
  A complete ophthalmologic examination, magnetic resonance imaging, cytological, and genetic studies were carried out in clinical practice. Each sibling was treated by means of pars plana vitrectomy. Vitreous samples stained with Congo Red revealed apple-green birefringence when viewed under polarized light.
  
  
  RESULTS
  In each case, visual acuity improved greatly after pars plana vitrectomy. A Tyr69His mutation in the transthyretin (TTR) gene was genetically confirmed in 2 of the siblings.
  
  
  CONCLUSIONS
  This report adds to the literature regarding OLMA and its association with a Tyr69His mutation in the TTR gene. Despite no proven therapy at this time, symptomatic treatment with pars plana vitrectomy appears to be beneficial.
authors.affiliation: Queen's University, Kingston, Ont., Canada.
authors.forename: Kelly
authors.initials: K
authors.lastname: Schweitzer
authors.forename: David
authors.initials: D
authors.lastname: Ehmann
authors.forename: Raul
authors.initials: R
authors.lastname: Garcia
authors.forename: Edward
authors.initials: E
authors.lastname: Alport
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics* / Q000378:metabolism; D035781:Siblings; D014821:Vitrectomy
chemical_list: D011228:Prealbumin; D004247:DNA