title: A case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy.
abstract: We describe a case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy (FAP) associated with Val30Met transthyretin mutation. A healthy 74-year-old woman noticed left blurred vision and floaters in 1992. Severe vitreous opacities were identified in the left eye. The patient displayed no systemic symptoms, and Congo red staining of the biopsy samples of the stomach and duodenum revealed no amyloid deposition. A diagnosis of FAP was confirmed following genetic investigation. Vitrectomy and cataract surgery was performed with intraocular lens implantation in April 1998. Histopathological examination of the vitreous material revealed amyloid fibrils. Intraocular pressure (IOP) gradually elevated and cupping of the optic disc enlarged. Trabeculectomy was performed in February 2000, but postoperative IOP was again elevated and a needling procedure was performed in March 2000. No postoperative recurrence of vitreous opacity has been reported and IOP has remained well controlled. In the present case, ocular manifestations were the only symptoms of FAP and systemic symptoms have not developed, after more than 12 years. FAP should be suspected as the cause in cases of vitreous opacities in patients from areas with endemic foci of FAP.
authors.affiliation: Department of Ophthalmology and Visual Science, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Kawaji
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.forename: Eiko
authors.initials: E
authors.lastname: Ando
authors.forename: Masaaki
authors.initials: M
authors.lastname: Nakamura
authors.forename: Akira
authors.initials: A
authors.lastname: Hirata
authors.forename: Hidenobu
authors.initials: H
authors.lastname: Tanihara
mesh_terms: D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002386:Cataract / Q000209:etiology / Q000473:pathology / Q000628:therapy*; D002387:Cataract Extraction; D005260:Female; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D011228:Prealbumin / Q000235:genetics; D014821:Vitrectomy
chemical_list: D011228:Prealbumin