Sandgren O, Holmgren G, Lundgren E
Department of Ophthalmology, University of Umeå, Sweden.
Arch Ophthalmol. 1990 Nov;108(11):1584-6. doi: 10.1001/archopht.1990.01070130086036.
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.
