title: Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly.
abstract: 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 conduction studies showed upper and lower limb axonal polyneuropathy. Magnetic resonance imaging of the brain and spinal cord, renal and cardiac function were normal. Vitreous and conjunctival biopsies confirmed the diagnosis of TTR-related amyloidosis. Genetic analysis of exon 2 of the TTR gene revealed that the patient was heterozygous for a single nucleotide substitution c.160 A>G, resulting in replacement of arginine with glycine at position 34 of the mature protein (Arg34Gly). Five years later the patient developed increasing sensory and motor neuropathy of both lower limbs, and neovascular glaucoma in one eye. We hypothesize that the reason for his neovascular glaucoma was retinal ischaemia secondary to amyloid retinal vasculopathy.
authors.affiliation: The Ocular Immunology Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
authors.forename: Jaime
authors.initials: J
authors.lastname: Levy
authors.forename: Philip N
authors.initials: PN
authors.lastname: Hawkins
authors.forename: Dorota
authors.initials: D
authors.lastname: Rowczenio
authors.forename: Tim
authors.initials: T
authors.lastname: Godfrey
authors.forename: Richard
authors.initials: R
authors.lastname: Stawell
authors.forename: Ehud
authors.initials: E
authors.lastname: Zamir
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005901:Glaucoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011228:Prealbumin / Q000235:genetics*; D031300:Retinal Vasculitis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014822:Vitreous Body / Q000378:metabolism / Q000473:pathology
chemical_list: D011228:Prealbumin