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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;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
Discovery of PHB1 as a novel candidate gene in dominant optic atrophy
Marija Volk, Aleš Maver, Aleš Maver, Martina Jarc-Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin, Rok Romih, Marko Hawlina, Borut Peterlin
Izvirni znanstveni članek
Oznake: PHB1;candidate genes;dominant optic atrophy;mitochondrial dysfunction;
Hereditary optic neuropathies comprise a genetically heterogeneous group of disorders caused by pathogenic variants in mitochondrial and nuclear genes. Despite increasing diagnostic yields, many patients remain without a molecular diagnosis. We report a novel candidate heterozygous variant in the PH ...
Leto: 2026 Vir: Repozitorij Univerze v Ljubljani (RUL)
Št. zadetkov: 3
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