Št. zadetkov: 12
Magistrsko delo
Oznake:
Čepnični sistem / okvara barvnega vida / elektroretinografija / spektralna občutljivost / LED svetlobni sintetizator;
Zaznavanje barv pri človeku omogoča primerjava odzivov treh razredov svetlobnih čutnic ali fotoreceptorjev, ki imajo različne spektralne občutljivosti. Okvara ali izguba enega ali več razredov čepnic privede do okvare barvnega vida ali barvne slepote, ki prizadene znaten delež populacije. Odkrivamo ...
Leto:
2018
Vir:
Biotehniška fakulteta (UL BF)
Izvirni znanstveni članek
Oznake:
central serous chorioretinopathy;correlations;morphological correlations;functional correlations;
Purpose We evaluate morphological and functional correlations in patients with acute central serous chorioretinopathy (CSC). Methods A prospective study was conducted on 50 patients with an acute CSC episode lasting less than 3 months. At baseline, assessments included optical coherence tomography ( ...
Leto:
2024
Vir:
Fakulteta za matematiko in fiziko (UL FMF)
Kratki znanstveni prispevek
Oznake:
mitochondrial optic neuropathy;OPA3;cystic fibrosis;
The striking similarity of disc edema without leakage on fluorescein angiography, which is pathognomonic of Leber hereditary optic neuropathy (LHON), was present in a patient with cystic fibrosis with antibiotic toxic optic neuropathy. This similarity suggested the common effect of oxidative stress ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
retinitis pigmentosa;RP;vitamin A;CSNB;NBWD;congenital stationary night blindness;rhodopsin;RHO;sector RP;treatment;
The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between th ...
Leto:
2023
Vir:
Medicinska fakulteta (UL MF)
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)
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:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
DRAM2;inherited retinal dystrophy;genetic spectrum;phenotype variability;genotype– phenotype correlation;fundus autofluorescence imaging;electrophysiology;
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described ...
Leto:
2022
Vir:
Medicinska fakulteta (UL MF)
Pregledni znanstveni članek
Oznake:
clinical standards;visual evoked potential;International Society for Clinical Electrophysiology of Vision;pattern reversal visual evoked potential;pattern onset/offset visual evoked potential;flash visual evoked potential;
Visual evoked potentials (VEPs) are electrophysiologic responses to pattern or flash stimuli, recorded over the occiput. VEPs can provide information regarding the function of the visual system and are valuable in the diagnosis and investigation of optic nerve disease or post-retinal visual pathway ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
USH2A-retinopathy;double hyperautofluorescent rings;electrophysiology;
USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a rare pat ...
Leto:
2019
Vir:
Medicinska fakulteta (UL MF)
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