A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation.
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.
Kono
Syoichiro
S
Department of Neurology, National Hospital Organization Okayama Medical Center, Okayama, Japan.
Manabe
Yasuhiro
Y
Tanaka
Tomotaka
T
Fujii
Daiki
D
Sakai
Yasuko
Y
Narai
Hisashi
H
Omori
Nobuhiko
N
Ueda
Mitsuharu
M
Ando
Yukio
Y
Abe
Koji
K
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*
D011228:Prealbumin; D010649:Phenylalanine; D014633:Valine