Optical coherence tomography angiography (OCT-A) in retinitis pigmentosa and macular dystrophy patients: a retrospective study

por Deutsch, Sebastian, Lommatzsch, Albrecht, Weinitz, Silke, Farmand, Ghazaleh, Kellner, Ulrich
Publicado 2022

Screening auf Frühgeborenenretinopathie – die wichtigsten Änderungen in der neuen deutschen Leitlinie 2020

por Li, Jeany Q., Kellner, Ulrich, Lorenz, Birgit, Stahl, Andreas, Krohne, Tim U.
Publicado 2021

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations

por Gersch, Julia, Hufendiek, Katerina, Delarocque, Julien, Framme, Carsten, Jacobsen, Christina, Stöhr, Heidi, Kellner, Ulrich, Hufendiek, Karsten
Publicado 2022

Treatment contentment and preference of patients undergoing intravitreal anti-VEGF therapy

por Kellner, Ulrich, Bedar, Mohammad Seleman, Weinitz, Silke, Farmand, Ghazaleh, Sürül, Ebru Nida, Weide, Sara Maria, Schick, Tina
Publicado 2021

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

por Kellner, Ulrich, Weisschuh, Nicole, Weinitz, Silke, Farmand, Ghazaleh, Deutsch, Sebastian, Kortüm, Friederike, Mazzola, Pascale, Schäferhoff, Karin, Marino, Valerio, Dell’Orco, Daniele
Publicado 2021

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

por Hufendiek, Karsten, Hufendiek, Katerina, Jägle, Herbert, Stöhr, Heidi, Book, Marius, Spital, Georg, Rustambayova, Günay, Framme, Carsten, Weber, Bernhard H. F., Renner, Agnes B., Kellner, Ulrich
Publicado 2020

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

por Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Mazzola, Pascale, Kieninger, Sinja, Xiao, Ting, Kellner, Ulrich, Neuhann, Teresa, Kelbsch, Carina, Tonagel, Felix, Wilhelm, Helmut, Kohl, Susanne, Wissinger, Bernd
Publicado 2021

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies

por Nachtigal, Anna-Lena, Milenkovic, Andrea, Brandl, Caroline, Schulz, Heidi L., Duerr, Lisa M. J., Lang, Gabriele E., Reiff, Charlotte, Herrmann, Philipp, Kellner, Ulrich, Weber, Bernhard H.F.
Publicado 2020

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs

por Schulz, Heidi L., Grassmann, Felix, Kellner, Ulrich, Spital, Georg, Rüther, Klaus, Jägle, Herbert, Hufendiek, Karsten, Rating, Philipp, Huchzermeyer, Cord, Baier, Maria J., Weber, Bernhard H. F., Stöhr, Heidi
Publicado 2017

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

por Kieninger, Sinja, Xiao, Ting, Weisschuh, Nicole, Kohl, Susanne, Rüther, Klaus, Kroisel, Peter Michael, Brockmann, Tobias, Knappe, Steffi, Kellner, Ulrich, Lagrèze, Wolf, Mazzola, Pascale, Haack, Tobias B, Wissinger, Bernd, Tonagel, Felix
Publicado 2022

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

por Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Publicado 2015

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

por Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Solé, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N., Sola, Maria, Delettre, Cécile
Publicado 2019

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

por Weisschuh, Nicole, Mayer, Anja K., Strom, Tim M., Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G., Hamel, Christian P., Heckenlively, John R., Jacobson, Samuel G., Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M., Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G., Wissinger, Bernd
Publicado 2016

Next-generation genetic testing for retinitis pigmentosa

por Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans
Publicado 2012

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

por Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne
Publicado 2022

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

por Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy
Publicado 2021