Transthyretin Ser-44 mutation in a case with vitreous amyloidosis.
OBJECTIVE
To report a case of vitreous amyloidosis associated with a transthyretin Ser-44 mutation.


METHODS
Interventional case report. A 44-year-old Japanese woman had a 2-month history of visual disturbance in both eyes. The vitreous and conjunctival specimens were subjected to histopathological examination. DNA was isolated from peripheral blood cells of the patient. The transthyretin gene was amplified and directly sequenced.


RESULTS
The vitreous and conjunctiva specimens showed typical light microscopic features of amyloidosis. Direct sequencing of the transthyretin gene revealed a single base-pair substitution, which results in an amino acid substitution at position 44, phenylalanine to serine (transthyretin Ser-44).


CONCLUSIONS
Transthyretin Ser-44 may cause vitreous amyloidosis.
Murakami
Akira
A
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. amurak@med.juntendo.ac.jp
Fujiki
Keiko
K
Hasegawa
Sachiko
S
Imamura
Shu
S
Kawano
Hiroyuki
H
Kanai
Atsushi
A
Matsumoto
Toshiharu
T
D000328:Adult; D019943:Amino Acid Substitution; D000686:Amyloidosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012694:Serine; D014822:Vitreous Body
D011228:Prealbumin; D012694:Serine