Visual Loss due to Giant Cell Arteritis

by Ana Fakin, Viktorija Kerin, Marko Hawlina
Published 2012-06-01

Usher Syndrome

by Ana Fakin, Damjan Glavač, Marko Hawlina
Published 2012-06-01

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

by Nina Kobal, Tjaša Krašovec, Maja Šuštar, Marija Volk, Borut Peterlin, Marko Hawlina, Ana Fakin
Published 2021-02-01

Disease Progression in <i>CNGA3</i> and <i>CNGB3</i> Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

by Manca Tekavčič Pompe, Nika Vrabič, Marija Volk, Andrej Meglič, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin
Published 2021-08-01

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the <i>RPGR</i>-<i>ORF15</i>

by Vlasta Hadalin, Maja Šuštar, Marija Volk, Aleš Maver, Jana Sajovic, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin
Published 2021-03-01

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

by Ana Fakin, Maja Šuštar, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina
Published 2019-11-01

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

by Stanley Lambertus, Nathalie M Bax, Ana Fakin, Joannes M M Groenewoud, B Jeroen Klevering, Anthony T Moore, Michel Michaelides, Andrew R Webster, Gert Jan van der Wilt, Carel B Hoyng
Published 2017-01-01

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel <i>GSN</i> Variant p.Glu580Lys

by Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin
Published 2021-01-01

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

by Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
Published 2020-09-01