Purpose: The purpose of this study was (1) to detect asymptomatic carriers of the prion protein gene mutation E200K, which is associated with Creutzfeldt-Jakob disease (CJD), in corneal donors and in the general population of Slovakia and (2) to assess the genetic testing of corneal donors as an effective preventive measure against iatrogenic infection in a country with an unusually high incidence of genetic CJD.
Methods: The prion protein gene (PRNP) was analyzed in 1133 corneal donors and 970 control subjects to search for E200K mutation and to determine the genotype at codon 129.
Results: Mutation E200K was found in 2 of the 1133 donors and in 4 of the 970 control subjects. The most frequent genotype at the codon 129 polymorphic region was methionine homozygous (48% of donors and controls).
Conclusions: An E200K mutation, which confers a risk of developing genetic CJD, was detected in corneal donors and in the general population. The majority of subjects were codon 129 methionine homozygous that increases susceptibility to CJD. Genetic testing of corneal donors in Slovakia is a useful and effective preventive measure against iatrogenic CJD through human corneal transplantation in the investigated population.