Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant

The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical e...

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Veröffentlicht in:	Genes 2025-01, Vol.16 (1), p.108
Hauptverfasser:	Petrovic Pajic, Sanja, Fakin, Ana, Jarc-Vidmar, Martina, Sustar Habjan, Maja, Malinar, Lucija, Pavlovic, Kasja, Krako Jakovljevic, Nina, Isakovic, Andjelka, Misirlic-Dencic, Sonja, Volk, Marija, Maver, Ales, Jezernik, Gregor, Glavac, Damjan, Peterlin, Borut, Markovic, Ivanka, Lalic, Nebojsa, Hawlina, Marko
Format:	Artikel
Sprache:	eng
Schlagworte:	Acuity Adult Color vision Depolarization DNA, Mitochondrial - genetics Electrophysiology Flow cytometry Genes Genetic analysis Genomic analysis Genotypes Heteroplasmy Humans Leukocytes (mononuclear) Male Medical ethics Mitochondria Mitochondria - genetics Mitochondria - pathology Mitochondrial DNA Mutation Optic Atrophy, Hereditary, Leber - genetics Optic Atrophy, Hereditary, Leber - pathology Optic nerve Optic neuropathy Pathogenicity Peripheral blood mononuclear cells Peripheral neuropathy Phenotypes Protein structure Proteins Proteomics Reactive oxygen species Respiration Structure-function relationships Tomography, Optical Coherence Visual Acuity Visual evoked potentials Visual perception Young Adult
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