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Št. zadetkov: 3
Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy
Mirella T. S. Barboni, Maja Šuštar Habjan, Sanja Petrović Pajić, Marko Hawlina
Izvirni znanstveni članek
Oznake: LHON;retina;electroretinogram;photopic negative response;oscillatory potentials;
Purpose Leber hereditary optic neuropathy (LHON) affects retinal ganglion cells causing severe vision loss. Pattern electroretinogram and photopic negative response (PhNR) of the light-adapted (LA) full-field electroretinogram (ERG) are typically affected in LHON. In the present study, we evaluated ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy
Mirella T. S. Barboni, Maja Šuštar, Sanja Petrović Pajić, Marko Hawlina, Marko Hawlina
Izvirni znanstveni članek
Oznake: LHON;electroretinogram;oscillatory potentials;retina;photopic negative response;
Purpose: Leber hereditary optic neuropathy (LHON) affects retinal ganglion cells causing severe vision loss. Pattern electroretinogram and photopic negative response (PhNR) of the light-adapted (LA) full-field electroretinogram (ERG) are typically affected in LHON. In the present study, we evaluated ...
Leto: 2024 Vir: Repozitorij Univerze v Ljubljani (RUL)
Atypical Leber Hereditary Optic Neuropathy (LHON) associated with a novel MT-CYB:m.15309T>C(Ile188Thr) variant
Sanja Petrović Pajić, Ana Fakin, Martina Jarc-Vidmar, Maja Šuštar, Lucija Malinar, Kasja Pavlovic, Nina Krako Jakovljevic, Marija Volk, Aleš Maver, Gregor Jezernik, Damjan Glavač, Borut Peterlin, Marko Hawlina
Izvirni znanstveni članek
Oznake: LHON;gene;electrophysiology;retinal segmentation;VA improvement;mitochondrial disfunction;proteomic analysis;
Background: 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 MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed an ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 3
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