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T. Kawaji, Y. Ando, E. Ando, A. Hirata, H. Tanihara; Ocular Amyloid Angiopathy Associated With Familial Amyloidotic Polyneuropathy ATTR Y114C . Invest. Ophthalmol. Vis. Sci. 2005;46(13):5247.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Recent attention has focused on cerebral amyloid angiopathy, which is one of several types of cerebral amyloidosis. However, amyloid angiopathy in other organs has not been examined. This study reports the clinicopathological findings for a unique ocular amyloid angiopathy in patients with familial amyloidotic polyneuropathy (FAP) caused by amyloidogenic transthyretin (ATTR) Y114C. Methods: We used examination of the fundus, fluorescein angiography (FA), indocyanine green angiography (IA), and histopathological studies to evaluate three women with FAP ATTR Y114C whose disease presented with visual disturbance. Results: In the 32–year–old patient, in the early stage of FAP, IA demonstrated multiple sites of hyperfluorescence: tissue along the major choroidal veins stained, although retinal vessels appeared normal in fundus and FA examinations. 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. FA showed vascular closure, focal staining, and microaneurysms. IA revealed multiple sites of hyperfluorescence, with tissue staining along retinal and choroidal vessels. Repeated examinations revealed that these vascular changes continued to worsen. Histopathological study of an eye obtained at autopsy from the 49–year–old patient revealed marked intra– and extravascular amyloid deposition. Conclusions: Severe and progressive amyloid angiopathy causing visual disturbance does occur in FAP ATTR Y114C.
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