title: Transthyretin Ser-44 mutation in a case with vitreous amyloidosis.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. amurak@med.juntendo.ac.jp
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.forename: Sachiko
authors.initials: S
authors.lastname: Hasegawa
authors.forename: Shu
authors.initials: S
authors.lastname: Imamura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kawano
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Matsumoto
mesh_terms: 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
chemical_list: D011228:Prealbumin; D012694:Serine