Article
Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2012
Levy Jaime, Hawkins Philip N, Rowczenio Dorota, Godfrey Tim, Stawell Richard, Zamir Ehud
Abstract excerpt
We report a 57-year-old man with pathognomonic bilateral vitreo-lenticular amyloid opacities (pseudopodia lentis) in whom a novel transthyretin (TTR) mutation was identified. The patient presented due to bilateral floaters. The vitreous cavities of both eyes showed course, fibrilar opacities attached to the posterior lens surface with pseudopodia. There was a history of bilateral carpal tunnel syndrome. Nerve...
Topics
- Amyloid Neuropathies, Familial
- Exons
- Glaucoma
- Humans
- Male
- Middle Aged
- Polymorphism, Single Nucleotide
- Prealbumin
- Retinal Vasculitis
- Vitreous Body