Ocular amyloid angiopathy associated with familial amyloidotic polyneuropathy caused by amyloidogenic transthyretin Y114C.
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.
Kawaji
Takahiro
T
Department of Ophthalmology and Visual Science, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Ando
Yukio
Y
Nakamura
Masaaki
M
Yamashita
Taro
T
Wakita
Miki
M
Ando
Eiko
E
Hirata
Akira
A
Tanihara
Hidenobu
H
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
D000682:Amyloid; D011228:Prealbumin; D007208:Indocyanine Green