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Št. zadetkov: 3
Vidni evociarni potenciali in elektrofiziološko ocenjevanje vidne poti
Jelka Brecelj
Izvirni znanstveni članek
Oznake: vid;fiziologija;elektrofiziologija;
Leto: 1994 Vir: dLib.si Digitalna knjižnica Slovenije
Natural history of Stargardt disease
Jana Sajovic, Andrej Meglič, Ana Fakin, Jelka Brecelj, Maja Šuštar, Marko Hawlina, Martina Jarc-Vidmar
Izvirni znanstveni članek
Oznake: long-term follow-up;STGD1;ERG groups;fishman stages;DDAF area;genotype-phenotype correlations;
Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last ...
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Double hyperautofluorescent rings in patients with USH2A-retinopathy
Ana Fakin, Maja Šuštar, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina
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)
Št. zadetkov: 3
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