title: Elderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries.
abstract: Familial amyloid polyneuropathy (FAP) is a systemic disorder transmitted as an autosomal dominant trait and is characterized by deposits of protein fibrils in various organs leading to physiologic dysfunction. In cases with FAP in Japanese endemic foci, their signs and symptoms often develop before the age of 40 years. We report on two elderly patients (an 80-year-old woman and an 83-year-old man) with progressive vitreous opacities (VOs) as the initial manifestation of hereditary transthyretin (ATTR Val30Met) carries, who had no evidence of systemic involvement or family history of amyloidosis and lived in non-endemic areas. Therapeutic vitrectomy with extensive vitreous removal combined with cataract surgery was performed. Clinicians should consider the possibility of hereditary transthyretin carries in cases presenting with VOs of undetermined etiology to avoid misdiagnosis.
authors.affiliation: a Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan.|b Department of Ophthalmology , Toho University Ohashi Medical Center , Tokyo , Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Ishida
authors.affiliation: a Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Nishida
authors.affiliation: a Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan.|c Department of Ophthalmology , Ogaki Municipal Hospital , Gifu , Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Niimi
authors.affiliation: a Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Suemori
authors.affiliation: a Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan.
authors.forename: Kiyofumi
authors.initials: K
authors.lastname: Mochizuki
authors.affiliation: d Department of Ophthalmology , Gifu Municipal Hospital , Gifu , Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Kawakami
authors.affiliation: e Department of Neurology and Geriatrics , Gifu University Graduate School of Medicine , Gifu , Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Kimura
authors.affiliation: f Department of Neurology , Ogaki Municipal Hospital , Gifu , Japan.
authors.forename: Tetsuyuki
authors.initials: T
authors.lastname: Hirayama
mesh_terms: D000369:Aged, 80 and over; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D004596:Electroretinography; D005128:Eye Diseases / Q000175:diagnosis* / Q000601:surgery; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D041623:Tomography, Optical Coherence; D014821:Vitrectomy; D014822:Vitreous Body / Q000473:pathology* / Q000601:surgery
keywords: Familial amyloid polyneuropathy; Val30Met mutation; hereditary transthyretin carries; vitreous opacities