title: A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation.
abstract: We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without carpal tunnel syndrome. Liver transplantation was performed and her postoperative course was stable. Taken together with previous reports, vitreous opacities seem to be common to Val33 FAP. Vitreous amyloidosis is usually seen in combination with the involvement of other visceral organs. The findings in the present case emphasize that vitreous opacities could be the first manifestation of FAP.
authors.affiliation: Department of Neurology, National Hospital Organization Okayama Medical Center, Okayama, Japan.
authors.forename: Syoichiro
authors.initials: S
authors.lastname: Kono
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Manabe
authors.forename: Tomotaka
authors.initials: T
authors.lastname: Tanaka
authors.forename: Daiki
authors.initials: D
authors.lastname: Fujii
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Sakai
authors.forename: Hisashi
authors.initials: H
authors.lastname: Narai
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Omori
authors.forename: Mitsuharu
authors.initials: M
authors.lastname: Ueda
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D010649:Phenylalanine / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*; D014633:Valine / Q000235:genetics; D014822:Vitreous Body / Q000473:pathology*
chemical_list: D011228:Prealbumin; D010649:Phenylalanine; D014633:Valine