title: 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.
authors.affiliation: Department of Medical Genetics, University of Turku, Turku, Finland. anu.puomila@utu.fi
authors.forename: Anu
authors.initials: A
authors.lastname: Puomila
authors.forename: Petra
authors.initials: P
authors.lastname: Hämäläinen
authors.forename: Sanna
authors.initials: S
authors.lastname: Kivioja
authors.forename: Marja-Liisa
authors.initials: ML
authors.lastname: Savontaus
authors.forename: Satu
authors.initials: S
authors.lastname: Koivumäki
authors.forename: Kirsi
authors.initials: K
authors.lastname: Huoponen
authors.forename: Eeva
authors.initials: E
authors.lastname: Nikoskelainen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D005387:Finland / Q000453:epidemiology; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000453:epidemiology* / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D012307:Risk Factors; D017678:Sex Distribution
chemical_list: D004272:DNA, Mitochondrial