Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene.
Familial amyloidotic polyneuropathy is an autosomal dominant inherited disorder. Biochemical studies have revealed that the amyloid protein in familial amyloidotic polyneuropathy of Japanese, Swedish, and Portuguese origin mainly consists of a variant transthyretin with one amino acid substitution of methionine for valine at position 30, termed TTR met-30. In five Swedish patients with familial amyloidotic polyneuropathy we diagnosed homozygosity for the TTR met-30 gene using restriction fragment length polymorphism analysis. The homozygous individuals did not show more severe systemic symptoms or earlier onset than heterozygotes for the TTR met-30 gene. The only clinical difference was the presence of vitreous opacities in all homozygous patients.
Sandgren
O
O
Department of Ophthalmology, University of Umeå, Sweden.
Holmgren
G
G
Lundgren
E
E
D000368:Aged; D000682:Amyloid / Q000235:genetics*; D000686:Amyloidosis / Q000235:genetics*; D015139:Blotting, Southern; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D014822:Vitreous Body
D000682:Amyloid; D011228:Prealbumin; C041120:amyloid prealbumin