Tranthyretin er-44 mutation in a cae with vitreou amyloidoi

PURPOE: To report a cae of vitreou amyloidoi aociated with a tranthyretin er-44 mutation. METHOD: Interventional cae report. A 44-year-old Japanee woman had a 2-month hitory of viual diturbance in both eye. The vitreou and conjunctival pecimen were ubjected to hitopathological examination. DNA wa iolated from peripheral blood cell of the patient. The tranthyretin gene wa amplified and directly equenced. REULT: The vitreou and conjunctiva pecimen howed typical light microcopic feature of amyloidoi. Direct equencing of the tranthyretin gene revealed a ingle bae-pair ubtitution, which reult in an amino acid ubtitution at poition 44, phenylalanine to erine (tranthyretin er-44). CONCLUION: Tranthyretin er-44 may caue vitreou amyloidoi.