title: Ocular amyloid angiopathy associated with familial amyloidotic polyneuropathy caused by amyloidogenic transthyretin Y114C.
abstract: OBJECTIVE
  To report the clinicopathological findings for a unique ocular amyloid angiopathy in patients with familial amyloidotic polyneuropathy (FAP) caused by amyloidogenic transthyretin Y114C.
  
  
  METHODS
  Three case reports.
  
  
  METHODS
  Retrospective review of clinicopathological findings, course, and treatment of the 3 patients.
  
  
  METHODS
  Visual acuity, intraocular pressure, fundus photography, fluorescein angiography (FA), indocyanine green angiography, and histopathological analysis.
  
  
  RESULTS
  In the 32-year-old patient, in the early stage of FAP, indocyanine green angiography demonstrated multiple sites of hyperfluorescence, with staining along major choroidal veins. Retinal vessels appeared normal clinically and on FA. In the 48-year-old patient, who had late-stage FAP, examination of the fundus revealed pinpoint white amyloid opacities over the retinal surface, sheathing of retinal vessels, and scattered retinal hemorrhages. Fluorescein angiography showed vascular closure, focal staining, and microaneurysms. Indocyanine green angiography revealed multiple sites of hyperfluorescence, with staining along retinal and choroidal vessels. Examination during follow-up revealed that these vascular changes continued to progress. Histopathological study of an eye obtained at autopsy from the 49-year-old patient revealed marked intravascular and extravascular amyloid deposition.
  
  
  CONCLUSIONS
  Severe and progressive amyloid angiopathy causing visual disturbance was seen in patients with FAP caused by amyloidogenic transthyretin Y114C.
authors.affiliation: Department of Ophthalmology and Visual Science, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Kawaji
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.forename: Masaaki
authors.initials: M
authors.lastname: Nakamura
authors.forename: Taro
authors.initials: T
authors.lastname: Yamashita
authors.forename: Miki
authors.initials: M
authors.lastname: Wakita
authors.forename: Eiko
authors.initials: E
authors.lastname: Ando
authors.forename: Akira
authors.initials: A
authors.lastname: Hirata
authors.forename: Hidenobu
authors.initials: H
authors.lastname: Tanihara
mesh_terms: D000328:Adult; D000682:Amyloid / Q000378:metabolism*; D028227:Amyloid Neuropathies, Familial / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002829:Choroid / Q000098:blood supply / Q000378:metabolism; D015862:Choroid Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007208:Indocyanine Green; D007429:Intraocular Pressure; D008875:Middle Aged; D016491:Peripheral Vascular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012171:Retinal Vessels / Q000378:metabolism / Q000473:pathology; D012189:Retrospective Studies; D014792:Visual Acuity
chemical_list: D000682:Amyloid; D011228:Prealbumin; D007208:Indocyanine Green