title: Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.
abstract: Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy. The first clinical description of the disease was made by Theodor Leber, a German ophthalmologist, in 1871. Here we present his thorough notes about members of four families and their pedigrees. We also provide insights into the current knowledge about LHON pathology, genetics and treatment in comparison with Leber's findings.
authors.affiliation: Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Street, 02-106 Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Piotrowska
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw, Sierakowskiego 13 Street, 03-709 Warsaw, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Korwin
authors.affiliation: Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Street, 02-106 Warsaw, Poland; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 5a Pawińskiego Street, 02-106 Warsaw, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Bartnik
authors.affiliation: Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Street, 02-106 Warsaw, Poland. Electronic address: kaska@igib.uw.edu.pl.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Tońska
mesh_terms: D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D049672:History, 19th Century; D006801:Humans; D008297:Male; D009154:Mutation; D009885:Ophthalmology / Q000266:history; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000266:history* / Q000473:pathology; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial
keywords: History; LHON; Mitochondrial disease; Mitochondrial genetics; Theodor Leber