Vitreous amyloidosis in two sisters as the indication of transthyretin-related familial form of systemic amyloidosis among liver transplantation candidates.
Vitreous amyloidosis, a rare condition characteristic of the familial form of systemic amyloidosis with polyneuropathy, is caused by a mutation in the transthyretin (TTR) gene. Herein we have presented 2 sisters with involvement of the vitreous body, which prompted a subsequent diagnosis of the TTR-related, familial form of systemic amyloidosis. Due to the progressive character of the disease and poor prognosis, the patients have been considered for liver transplantation, which at present is the only treatment option for this disease.
Niemczyk
R
R
Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland. reniemczyk@wp.pl
Brydak-Godowska
J
J
Kecik
D
D
Wagner
T
T
Lewandowski
P
P
Kecik
M
M
Zygier
D
D
Ołdakowska-Jedynak
U
U
D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D016031:Liver Transplantation / Q000502:physiology*; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*; D035781:Siblings; D014463:Ultrasonography; D014822:Vitreous Body / Q000473:pathology
D011228:Prealbumin