title: [Clinical examination of Leber hereditary optic neuropathy in patients with the same gene mutation].
abstract: Leber hereditary optic neuropathy (LHON), which is a relatively rare disease, is an inherited form of bilateral atrophy of optic nerves. This atrophy is related to degeneration of retinal ganglion cells and optic nerve axons. The aetiology of this disease is complex and involves primary mutations of mitochondrial DNA, as well as secondary genetic and/or epigenetic changes. We compared the clinical course of LHON in the patients with identical mitochondrial mutations. The molecular PCR-diagnosis was performed in 8 patients, representing 2 generations of the tested family. The group included 2 women suspected of being carriers and 6 men, 3 of whom were diagnosed with LHON and 3 suspected of being at risk of LHON. The primary 11,778 mtDNA mutation was diagnosed in all tested patients with one exception of the son of a male with LHON, which is in agreement with inheritance of mtDNA mutations.
authors.affiliation: Klinika Okulistyczna Akademii Medycznej we Wrocławiu.
authors.forename: Joanna
authors.initials: J
authors.lastname: Chelstowska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Mroczek
authors.forename: Dorota
authors.initials: D
authors.lastname: Niebudek
authors.forename: Alicja
authors.initials: A
authors.lastname: Małecka-Idzikowska
authors.forename: Ewa
authors.initials: E
authors.lastname: Bartnik
authors.forename: Maria
authors.initials: M
authors.lastname: Hanna Nizankowska
authors.forename: Maria
authors.initials: M
authors.lastname: Sasiadek
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial