title: Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
abstract: We present a clinical pathological review of vitreous amyloidosis in a case of familial amyloidotic polyneuropathy, type I. Vitreous opacification was the first manifestation of disease in the proband, who was successfully treated with vitrectomy. The eyes were obtained at autopsy after the patient died from an unrelated cause, and the histopathology is presented here. Analysis of DNA from the pathology specimen revealed the most commonly reported transthyretin mutation, Val30Met. The classification of systemic and ocular amyloidosis as well as the genetics of familial amyloidotic polyneuropathy are briefly reviewed.
authors.affiliation: Department of Opthalmology, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: T A
authors.initials: TA
authors.lastname: Ciulla
authors.forename: F
authors.initials: F
authors.lastname: Tolentino
authors.forename: J F
authors.initials: JF
authors.lastname: Morrow
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D000368:Aged; D000682:Amyloid / Q000235:genetics*; D017772:Amyloid Neuropathies / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D001483:Base Sequence; D004247:DNA / Q000032:analysis / Q000737:chemistry; D017931:DNA Primers / Q000737:chemistry; D005128:Eye Diseases / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D014821:Vitrectomy; D014822:Vitreous Body / Q000473:pathology*
chemical_list: D000682:Amyloid; D017931:DNA Primers; D011228:Prealbumin; C041120:amyloid prealbumin; D004247:DNA