We report a 45-year-old woman with a new transthyretin (TTR) variant, substitution of leucine for tryptophan at residue 41, who has showed vitreous opacities without any other visceral organ involvement since age of 42. Congo red staining of vitrectomy specimens revealed that the vitreous fiuid contained amyloid fibrils, which were strongly positive for immunohistochemical staining using anti-human TTR antiserum. DNA analysis of the TTR gene showed a G to T transversion at the second nucleotide of codon 41, indicating a replacement of tryptophan (TGG) by leucine (TTG). These results indicate that the patient's vitreous amyloid is associated with this novel TTR mutation.
- New transthyretin variant
- Vitreous amyloid
ASJC Scopus subject areas
- Pathology and Forensic Medicine