Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

Abstract

We have performed an entire-population-based survey of the epidemiology and penetrance of Leber hereditary optic neuropathy (LHON) in Finland – a country that is among the best-studied genetic isolates in the world. During our long-term clinical follow-up period since 1970, we have so far identified 36 LHON families in Finland, comprised of almost 1000 family members. Counting the unaffected family members has been possible thanks to accessible genealogical records, and this has improved the accuracy of our penetrance figures by minimizing the sample bias. Our results, although confirming some well-known features of LHON, indicate that the overall penetrance of LHON is lower than previously estimated, and that affected females have a higher incidence of affected offspring compared to the unaffected females. The prevalence of LHON in Finland is 1:50 000, and one in 9000 Finns is a carrier of one of the three LHON primary mutations.

DOI: 10.1038/sj.ejhg.5201828
0501002008200920102011201220132014201520162017
Citations per Year

272 Citations

Semantic Scholar estimates that this publication has 272 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Puomila2007EpidemiologyAP, title={Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland}, author={Anu Puomila and Petra H{\"a}m{\"a}l{\"a}inen and Sanna Kivioja and M. -L. Savontaus and Satu Koivum{\"a}ki and Kirsi A Huoponen and Eeva K. Nikoskelainen}, journal={European Journal of Human Genetics}, year={2007}, volume={15}, pages={1079-1089} }