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August 1967

Primary Familial Amyloidosis

Author Affiliations

Bethesda, Md
From the Ophthalmology Branch (Dr. Wong) and the Medical Neurology Branch (Dr. McFarlin), National Institute of Neurological Diseases and Blindness, National Institutes of Health, Public Health Service, US Department of Health, Education, and Welfare, Bethesda.

Arch Ophthalmol. 1967;78(2):208-213. doi:10.1001/archopht.1967.00980030210015

VITREOUS opacities and perivascular exudates in the eye are suggestive of primary familial amyloidosis.1,2 Posterior segment changes may represent the earliest signs of the disease.3 The origin of these amyloid containing depositions in the vitreous has remained an enigma. A case of primary familial amyloidosis with monocular internal ophthalmoplegia, bilateral deficiency of lacrimation, and bilateral vitreous veils is presented. The following report correlates the above clinical findings with their histopathological counterparts and provide evidence for the pathogenesis of the vitreous amyloid.

Report of a Case  A white girl (NIH 05-54-24) developed nausea, vomiting, marked weight loss, and decreased peripheral sensation at the age of 19. A year later in 1963, she became hypotensive and thereafter required continuous blood pressure maintenance with corticosteroids. She then noted the onset of constant dryness of her mouth and a deficiency of tears when crying. Subsequently there ensued easy bruisability and periorbital petechiae

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