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1,087 results on '"Lorenz, Birgit"'

2. P Score: A Reference Image-Based Clinical Grading Scale for Vascular Change in Retinopathy of Prematurity

Author

Chiang, Michael F., Quinn, Graham E., Fielder, Alistair R., Ostmo, Susan R., Chan, R. V. Paul, Berrocal, Audina, Binenbaum, Gil, Blair, Michael, Campbell, J. Peter, Capone, Antonio, Jr., Chen, Yi, Dai, Shuan, Ells, Anna, Fleck, Brian W., Good, William V., Hartnett, M. Elizabeth, Holmstrom, Gerd, Kusaka, Shunji, Kychenthal, Andrés, Lepore, Domenico, Lorenz, Birgit, Martinez-Castellanos, Maria Ana, O¨zdek, Şengu¨l, Ademola-Popoola, Dupe, Reynolds, James D., Shah, Parag K., Shapiro, Michael, Stahl, Andreas, Toth, Cynthia, Vinekar, Anand, Visser, Linda, Wallace, David K., Wu, Wei-Chi, Zhao, Peiquan, Zin, Andrea, Baran, Francine, Barry, Gerard, Bhatt, Amit, Davitt, Bradley, de Alba Campomanes, Alejandra, Eldib, Amgad, Geddie, Brooke E., Haider, Kathryn, Jensen, Anne, Khitri, Monica, Pihlblad, Matthew, Repka, Michael, Robbins, Shira, Rodriguez, Sarah, Coyner, Aaron S., He, Jocelyn, Ying, Gui-shuang, and Ostmo, Susan

Published
2024
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6. Treated Cases of Retinopathy of Prematurity in Germany: 10-Year Data from the Retina.net Retinopathy of Prematurity Registry

Author

Michalewicz, Emilia, Baumgarten, Sabine, Lohmann, Tibor, Walter, Peter, Breuß, Helge, Retzlaff, Annekatrin, Bödemann, Melanie, Liegl, Marian, El Moussaoui, Laila, Aisenbrey, Sabine, Saßmannshausen, Marlene, Liegl, Raffael, Engelmann, Katrin, Goldammer, Imke, Fleischer, Ulrike, Ander, Annika, Tietz, Martin, Wienigk, Anja, Li, Jeany Q., Krohne, Tim U., Guthoff, Rainer, Khamees, Ala, Kaya, Sema, Höhn, Thomas, Lohmeier, Klaus, Franzel, Julia, Busik, Valentina, Mais, Christine, Bemme, Sebastian, Khattab, Mohammed, Lauermann, Peer, Meyer, Yulia, Dieks, Jana Katharina, Bründer, Marie-Christine, Grundel, Bastian, Grundel, Milena, Paul, Sebastian, Stahl, Andreas, Tayar, Allam, Heckmann, Matthias, Bahlmann, Hagen, Linnemann, Knud, Skevas, Christos, Hagenau, Felix, Spitzer, Martin, Herden, Jonas, Gröber, Thomas, Haar, Melanie, Mester, Nils, Brockmann, Dorothee, Tode, Jan, Hufendiek, Karsten, Framme, Carsten, Bohnhorst, Bettina, Böhne, Carolin, Peter, Corinna, Pirr, Sabine, Brosig, Anton, Gniesmer, Stefanie, Grisanti, Salvatore, Lüken, Sabine, Piria, Roya, Prasuhn, Michelle, Ranjbar, Mahdy, Rommel, Felix, Schiemenz, Christian, Kakkassery, Vinodh, Heckert, Anni, Choritz, Lars, Glitz, Barbara, Eter, Nicole, Falkenau, Silvia, Gabel-Pfisterer, Ameli, Lindenberg, Ann-Sophie, Mathias, Altmann, Barth, Teresa, Benedikt, Blüml, Isabel, Oberacher-Velten, Patrick, Peters, Herbert, Jägle, Horst, Helbig, Stephan, Döring, Anette, Keller-Wackerbauer, Jochen, Kittel, Holger, Michel, Hugo, Segerer, Sven, Wellmann, Süsskind, Daniela, Partsch, Michael, Völker, Michael, Hagemann, Ulrike, Pfeil, Johanna M., Lagrèze, Wolf A., Lorenz, Birgit, and Breuss, Helge

Published
2024
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8. Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Patients with Inherited Retinal Disease from the United Kingdom

Author

Woof, William A., de Guimarães, Thales A.C., Al-Khuzaei, Saoud, Varela, Malena Daich, Sen, Sagnik, Bagga, Pallavi, Mendes, Bernardo, Shah, Mital, Burke, Paula, Parry, David, Lin, Siying, Naik, Gunjan, Ghoshal, Biraja, Liefers, Bart, Fu, Dun Jack, Georgiou, Michalis, Nguyen, Quang, Sousa da Silva, Alan, Liu, Yichen, Fujinami-Yokokawa, Yu, Sumodhee, Dayyanah, Patel, Praveen, Furman, Jennifer, Moghul, Ismail, Moosajee, Mariya, Sallum, Juliana, De Silva, Samantha R., Lorenz, Birgit, Holz, Frank G., Fujinami, Kaoru, Webster, Andrew R., Mahroo, Omar, Downes, Susan M., Madhusudhan, Savita, Balaskas, Konstantinos, Michaelides, Michel, and Pontikos, Nikolas

Published
2024
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9. Artificial intelligence extension of the OSCAR‐IB criteria

Author

Petzold, Axel, Albrecht, Philipp, Balcer, Laura, Bekkers, Erik, Brandt, Alexander U, Calabresi, Peter A, Deborah, Orla Galvin, Graves, Jennifer S, Green, Ari, Keane, Pearse A, Bijvank, Jenny A Nij, Sander, Josemir W, Paul, Friedemann, Saidha, Shiv, Villoslada, Pablo, Wagner, Siegfried K, Yeh, E Ann, Aktas, Orhan, Antel, Jack, Asgari, Nasrin, Audo, Isabelle, Avasarala, Jagannadha, Avril, Daly, Bagnato, Francesca R, Banwell, Brenda, Bar‐Or, Amit, Behbehani, Raed, Manterola, Arnaldo Belzunce, Bennett, Jeffrey, Benson, Leslie, Bernard, Jacqueline, Bremond‐Gignac, Dominique, Britze, Josefine, Burton, Jodie, Calkwood, Jonathan, Carroll, William, Chandratheva, Arvind, Cohen, Jeffrey, Comi, Giancarlo, Cordano, Christian, Costa, Silvana, Costello, Fiona, Courtney, Ardith, Cruz‐Herranz, Anes, Cutter, Gary, Crabb, David, Delott, Lindsey, De Seze, Jerome, Diem, Ricarda, Dollfuss, Helene, Ayoubi, Nabil K El, Fasser, Christina, Finke, Carsten, Fischer, Dominik, Fitzgerald, Kathryn, Fonseca, Pedro, Frederiksen, Jette L, Frohman, Elliot, Frohman, Teresa, Fujihara, Kazuo, Cuellar, Iñigo Gabilondo, Galetta, Steven, Garcia‐Martin, Elena, Giovannoni, Gavin, Glebauskiene, Brigita, Suárez, Inés González, Jensen, Gorm Pihl, Hamann, Steffen, Hartung, Hans‐Peter, Havla, Joachim, Hemmer, Bernhard, Huang, Su‐Chun, Imitola, Jaime, Jasinskas, Vytautas, Jiang, Hong, Kafieh, Rahele, Kappos, Ludwig, Kardon, Randy, Keegan, David, Kildebeck, Eric, Kim, Ungsoo Samuel, Klistorner, Sasha, Knier, Benjamin, Kolbe, Scott, Korn, Thomas, Krupp, Lauren, Lagrèze, Wolf, Leocani, Letizia, Levin, Netta, Liskova, Petra, Preiningerova, Jana Lizrova, Lorenz, Birgit, May, Eugene, Miller, David, Mikolajczak, Janine, Saïd, Saddek Mohand, Montalban, Xavier, Morrow, Mark, Mowry, Ellen, and Murta, Joaquim

Subjects
Biomedical and Clinical Sciences, Neurosciences, Bioengineering, Biomedical Imaging, Autoimmune Disease, Neurodegenerative, Aging, Brain Disorders, Neurological, Algorithms, Artificial Intelligence, Big Data, Cohort Studies, Humans, Nervous System Diseases, Retina, Tomography, Optical Coherence, IMSVISUAL, ERN-EYE Consortium, Clinical Sciences, Clinical and health psychology
Abstract

Artificial intelligence (AI)-based diagnostic algorithms have achieved ambitious aims through automated image pattern recognition. For neurological disorders, this includes neurodegeneration and inflammation. Scalable imaging technology for big data in neurology is optical coherence tomography (OCT). We highlight that OCT changes observed in the retina, as a window to the brain, are small, requiring rigorous quality control pipelines. There are existing tools for this purpose. Firstly, there are human-led validated consensus quality control criteria (OSCAR-IB) for OCT. Secondly, these criteria are embedded into OCT reporting guidelines (APOSTEL). The use of the described annotation of failed OCT scans advances machine learning. This is illustrated through the present review of the advantages and disadvantages of AI-based applications to OCT data. The neurological conditions reviewed here for the use of big data include Alzheimer disease, stroke, multiple sclerosis (MS), Parkinson disease, and epilepsy. It is noted that while big data is relevant for AI, ownership is complex. For this reason, we also reached out to involve representatives from patient organizations and the public domain in addition to clinical and research centers. The evidence reviewed can be grouped in a five-point expansion of the OSCAR-IB criteria to embrace AI (OSCAR-AI). The review concludes by specific recommendations on how this can be achieved practically and in compliance with existing guidelines.

Published
2021

11. National guideline for ophthalmological screening of premature infants in Germany (S2k level, AWMF guidelines register no. 024/010, March 2020): Joint recommendation of the German Ophthalmological Society (DOG), German Retina Society (RG), Professional Association of Ophthalmologists in Germany (BVA), German Society of Pediatrics and Adolescent Medicine (DGKJ), Professional Association of Pediatricians (BVKJ), Federal Association “The Premature Infant”, Society for Neonatology and Pediatric Intensive Care Medicine (GNPI)

Author

Maier, Rolf F., Hummler, Helmut, Kellner, Ulrich, Krohne, Tim U., Lawrenz, Burkhard, Lorenz, Birgit, Mitschdörfer, Barbara, Roll, Claudia, and Stahl, Andreas

Published
2022
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16. Augenärztliche Screening-Untersuchung bei Frühgeborenen (S2k-Level, AWMF-Leitlinien-Register-Nr. 024/010, März 2020): Gemeinsame Empfehlung von Deutsche Ophthalmologische Gesellschaft (DOG), Retinologische Gesellschaft (RG), Berufsverband der Augenärzte Deutschlands (BVA), Deutsche Gesellschaft für Kinder- und Jugendmedizin (DGKJ), Berufsverband der Kinder- und Jugendärzte e. V. (BVKJ), Bundesverband „Das frühgeborene Kind“ e. V., Gesellschaft für Neonatologie und Pädiatrische Intensivmedizin (GNPI)

Author

Maier, Rolf F., Hummler, Helmut, Kellner, Ulrich, Krohne, Tim U., Lawrenz, Burkhard, Lorenz, Birgit, Mitschdörfer, Barbara, Roll, Claudia, and Stahl, Andreas

Published
2021
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17. Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom

Author

Woof, William, primary, de Guimaraes, Thales A.C., additional, Al-Khuzaei, Saoud, additional, Daich Varela, Malena, additional, Sen, Sagnik, additional, Bagga, Pallavi, additional, Mendes, Bernardo Souza, additional, Shah, Mital, additional, Burke, Paula, additional, Parry, David G., additional, Lin, Siying, additional, Naik, Gunjan, additional, da Silva, Alan Sousa, additional, Ghoshal, Biraja, additional, Liefers, Bart, additional, Fu, Dun Jack, additional, Georgiou, Michalis, additional, Liu, Yichen, additional, Nguyen, Quang, additional, Fujinami-Yokokawa, Yu, additional, Kabiri, Nathaniel, additional, Sumodhee, Dayyanah, additional, Furman, Jennifer, additional, Patel, Praveen J., additional, Moghul, Ismail, additional, Sallum, Juliana, additional, De Silva, Samantha R., additional, Lorenz, Birgit, additional, Holz, Frank G., additional, Fujinami, Kaoru, additional, Webster, Andrew R, additional, Mahroo, Omar A., additional, Downes, Susan M., additional, Madhusudhan, Savita, additional, Balaskas, Konstantinos, additional, Michaelides, Michel, additional, and Pontikos, Nikolas, additional

Published
2024
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20. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Author

Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B. G. M., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., and FitzPatrick, David R.

Published
2020
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26. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

Author

Mackay, Donna S, Borman, Arundhati Dev, Sui, Ruifang, Born, L Ingeborgh, Berson, Eliot L, Ocaka, Louise A, Davidson, Alice E, Heckenlively, John R, Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Group, LCA5 Study, Andreasson, Sten, Baere, Elfride, Bennett, Jean, Chader, Gerald J, Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, Hollander, Anneke I, Klaver, Caroline CW, Klevering, B Jeroen, Lorenz, Birgit, Preising, Markus N, Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R, Cremers, Frans PM, Moore, Anthony T, and Koenekoop, Robert K

Subjects
Eye Disease and Disorders of Vision, Neurosciences, Clinical Research, Genetics, Neurodegenerative, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Alleles, Child, Child, Preschool, Consanguinity, Eye Proteins, Female, Fluorescein Angiography, Genetic Association Studies, Genotype, Humans, Infant, Infant, Newborn, Leber Congenital Amaurosis, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Pedigree, Phenotype, Retina, Retinitis Pigmentosa, Young Adult, [LCA5 Study Group, LCA, LCA5, RP, blindness, lebercilin, retinal dystrophy, Clinical Sciences, Genetics & Heredity
Abstract

This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early-onset retinal dystrophy (EORD), and autosomal recessive retinitis pigmentosa (arRP); to delineate the ocular phenotypes; and to provide an overview of all published LCA5 variants in an online database. Patients underwent standard ophthalmic evaluations after providing informed consent. In selected patients, optical coherence tomography (OCT) and fundus autofluorescence imaging were possible. DNA samples from 797 unrelated patients with LCA and 211 with the various types of retinitis pigmentosa (RP) were screened by Sanger sequence analysis of all LCA5 exons and intron/exon junctions. Some LCA patients were prescreened by APEX technology or selected based on homozygosity mapping. In silico analyses were performed to assess the pathogenicity of the variants. Segregation analysis was performed where possible. Published and novel LCA5 variants were collected, amended for their correct nomenclature, and listed in a Leiden Open Variation Database (LOVD). Sequence analysis identified 18 new probands with 19 different LCA5 variants. Seventeen of the 19 LCA5 variants were novel. Except for two missense variants and one splice site variant, all variants were protein-truncating mutations. Most patients expressed a severe phenotype, typical of LCA. However, some LCA subjects had better vision and intact inner segment/outer segment (IS/OS) junctions on OCT imaging. In two families with LCA5 variants, the phenotype was more compatible with EORD with affected individuals displaying preserved islands of retinal pigment epithelium. One of the families with a milder phenotype harbored a homozygous splice site mutation; a second family was found to have a combination of a stop mutation and a missense mutation. This is the largest LCA5 study to date. We sequenced 1,008 patients (797 with LCA, 211 with arRP) and identified 18 probands with LCA5 mutations. Mutations in LCA5 are a rare cause of childhood retinal dystrophy accounting for ∼2% of disease in this cohort, and the majority of LCA5 mutations are likely null. The LCA5 protein truncating mutations are predominantly associated with LCA. However, in two families with the milder EORD, the LCA5 gene analysis revealed a homozygous splice site mutation in one and a stop mutation in combination with a missense mutation in a second family, suggesting that this milder phenotype is due to residual function of lebercilin and expanding the currently known phenotypic spectrum to include the milder early onset RP. Some patients have remaining foveal cone structures (intact IS/OS junctions on OCT imaging) and remaining visual acuities, which may bode well for upcoming treatment trials.

Published
2013

31. Treated Cases of Retinopathy of Prematurity in Germany

Author

Pfeil, Johanna M., Barth, Teresa, Lagrèze, Wolf A., Lorenz, Birgit, Hufendiek, Karsten, Liegl, Raffael, Breuss, Helge, Bemme, Sebastian, Aisenbrey, Sabine, Glitz, Barbara, Süsskind, Daniela, Gabel-Pfisterer, Ameli, Skevas, Christos, Krohne, Tim U., Kakkassery, Vinodh, Bründer, Marie-Christine, Engelmann, Katrin, Guthoff, Rainer, Walter, Peter, Choritz, Lars, Stahl, Andreas, Michalewicz, Emilia, Baumgarten, Sabine, Lohmann, Tibor, Walter, Peter, Breuß, Helge, Retzlaff, Annekatrin, Bödemann, Melanie, Liegl, Marian, El Moussaoui, Laila, Aisenbrey, Sabine, Saßmannshausen, Marlene, Liegl, Raffael, Engelmann, Katrin, Goldammer, Imke, Fleischer, Ulrike, Ander, Annika, Tietz, Martin, Wienigk, Anja, Li, Jeany Q., Krohne, Tim U., Guthoff, Rainer, Khamees, Ala, Kaya, Sema, Höhn, Thomas, Lohmeier, Klaus, Franzel, Julia, Busik, Valentina, Mais, Christine, Bemme, Sebastian, Khattab, Mohammed, Lauermann, Peer, Meyer, Yulia, Dieks, Jana Katharina, Bründer, Marie-Christine, Grundel, Bastian, Grundel, Milena, Paul, Sebastian, Stahl, Andreas, Tayar, Allam, Heckmann, Matthias, Bahlmann, Hagen, Linnemann, Knud, Skevas, Christos, Hagenau, Felix, Spitzer, Martin, Herden, Jonas, Gröber, Thomas, Haar, Melanie, Mester, Nils, Brockmann, Dorothee, Tode, Jan, Hufendiek, Karsten, Framme, Carsten, Bohnhorst, Bettina, Böhne, Carolin, Peter, Corinna, Pirr, Sabine, Brosig, Anton, Gniesmer, Stefanie, Grisanti, Salvatore, Lüken, Sabine, Piria, Roya, Prasuhn, Michelle, Ranjbar, Mahdy, Rommel, Felix, Schiemenz, Christian, Kakkassery, Vinodh, Heckert, Anni, Choritz, Lars, Glitz, Barbara, Eter, Nicole, Falkenau, Silvia, Gabel-Pfisterer, Ameli, Lindenberg, Ann-Sophie, Mathias, Altmann, Barth, Teresa, Benedikt, Blüml, Isabel, Oberacher-Velten, Patrick, Peters, Herbert, Jägle, Horst, Helbig, Stephan, Döring, Anette, Keller-Wackerbauer, Jochen, Kittel, Holger, Michel, Hugo, Segerer, Sven, Wellmann, Süsskind, Daniela, Partsch, Michael, Völker, Michael, and Hagemann, Ulrike

Abstract

To analyze changes in demographic parameters and retreatment patterns over a 10-year period in a clinical routine setting of infants with retinopathy of prematurity (ROP) requiring treatment documented in the German Retina.net ROP registry.

Published
2024
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41. Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey

Author

Lorenz, Birgit, primary, Tavares, Joana, additional, van den Born, L. Ingeborgh, additional, Marques, João Pedro, additional, Pilotto, Elisabetta, additional, Stingl, Katarina, additional, Charbel Issa, Peter, additional, Leroux, Dorothée, additional, Dollfus, Hélène, additional, and Scholl, Hendrik P.N., additional

Published
2023
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42. Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net

Author

Lorenz, Birgit, Tavares, Joana, van den Born, L Ingeborgh, Marques, João Pedro, Pilotto, Elisabetta, Stingl, Katarina, Charbel Issa, Peter, Leroux, Dorothée, Dollfus, Hélène, and Scholl, Hendrik P N

Subjects
Europe, Cellular and Molecular Neuroscience, Ophthalmology, ERN-EYE health care providers, EVICR.net clinical centers, Inherited retinal degenerations, Management, General Medicine, Sensory Systems
Abstract

Introduction: An increasing number of gene-specific therapies are being developed for inherited retinal degenerations (IRDs). Identification of well-characterized patients is an emerging need. We conducted the second multinational survey among the EVICR.net and ERN-EYE members to understand the management and treatment of IRDs in Europe and compared it to the 2019 survey. Methods: An electronic survey questionnaire was developed and sent to 124 clinical centers (25 countries) by June/July 2021. Statistical analysis was performed with Excel and R. Results: The overall response rate was 44% but varied among countries. Only 9% of responding centers do not see IRD patients (2019 survey 14%), 42% follow at least 200 patients per year, 18% follow 500–999, and 2% more than 1,000. Databases exist in 86% of the centers (local 86%; national web based 12%). IRD patients are referred to EVICR.net and ERN-EYE centers mainly by general ophthalmologists, patient self-referral, or medical retina specialists. Most IRD patients are first seen as adults. Signs and symptoms depend on age of onset: in infancy, nystagmus; at older age, night blindness and reduced visual field; reduced visual acuity is described at any age. Comprehensive ophthalmic examination always includes visual acuity and almost always visual field multimodal retinal imaging, electrophysiology, color vision testing, and refraction. Identification of genotypes is successful in 72% of centers in 40–80% of cases (2019 survey 69% of centers). The time for confirmation of the genetic diagnosis varies from 2–4 weeks to 24 months (2019 survey >4 weeks ≤10 years). Genetic testing is covered by public health service in 83%, private health insurance in 29%, research funds in 24%; 5% do not have access to genetic testing (2019 survey 15%). The most striking result is the high increase in the involvement of centers in natural history and gene therapy trials that more than doubled for the latter. Discussion: This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increasing genotyping in diagnostic laboratories. The important increase in involvement of centers in natural history and gene therapy trials reflects the rapidly evolving field of gene therapy development. The survey provides important follow-up data for researchers, clinicians, caregivers, patient advocate groups, pharmaceutical companies, and investors.

Published
2023

43. sj-docx-1-ejo-10.1177_11206721231161377 - Supplemental material for Aberrant regeneration in an international registry of patients with 3rd-nerve palsy

Author

Oke, Isdin, Lorenz, Birgit, Basiakos, Sotirios, Gokyigit, Birsen, Laurent, Erick, Tsai, Chong-Bin, Orge, Faruk, Heidary, Gena, Tjeerd de Faber, Jan, Jeddawi, Laila, Sadiq, Mohammad Ali, Strominger, Mitchell, Dodd, Mary-Magdalene Ugo, Shah, Ankoor S., and Dagi, Linda R.

Subjects
Medicine
Abstract

Supplemental material, sj-docx-1-ejo-10.1177_11206721231161377 for Aberrant regeneration in an international registry of patients with 3rd-nerve palsy by Isdin Oke, Birgit Lorenz, Sotirios Basiakos, Birsen Gokyigit, Erick Laurent, Chong-Bin Tsai, Faruk Orge, Gena Heidary, Jan Tjeerd de Faber, Laila Jeddawi, Mohammad Ali Sadiq, Mitchell Strominger, Mary-Magdalene Ugo Dodd, Ankoor S. Shah, Linda R. Dagi and in European Journal of Ophthalmology

Published
2023
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44. Extraocular muscle ductions following nasal transposition of the split lateral rectus muscle

Author

Oke, Isdin, primary, Lorenz, Birgit, additional, Basiakos, Sotirios, additional, Gokyigit, Birsen, additional, Dodd, Mary-Magdalene Ugo, additional, Laurent, Erick, additional, Sadiq, Mohammad Ali, additional, Goberville, Mitra, additional, Elkamshoushy, Amr, additional, Tsai, Chong-bin, additional, Gravier, Nicholas, additional, Speeg-Schatz, Claude, additional, Shepherd, James Banks, additional, Saxena, Rohit, additional, Soni, Ajay, additional, Hunter, David G., additional, Shah, Ankoor S., additional, and Dagi, Linda R., additional

Published
2022
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45. Nasal Transposition of the Split Lateral Rectus Muscle for Strabismus Associated With Bilateral 3rd-Nerve Palsy

Author

Oke, Isdin, primary, Lorenz, Birgit, additional, Basiakos, Sotirios, additional, Gokyigit, Birsen, additional, Dodd, Mary-Magdalene Ugo, additional, Laurent, Erick, additional, Hunter, David G., additional, Goberville, Mitra, additional, Elkamshoushy, Amr, additional, Tsai, Chong-bin, additional, Orge, Faruk, additional, Velez, Federico G., additional, Jeddawi, Laila, additional, Gravier, Nicholas, additional, Li, Ningdong, additional, Shah, Ankoor S., additional, and Dagi, Linda R., additional

Published
2022
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48. Artificial Intelligence for Retinopathy of Prematurity

Author

Campbell, J. Peter, primary, Chiang, Michael F., additional, Chen, Jimmy S., additional, Moshfeghi, Darius M., additional, Nudleman, Eric, additional, Ruambivoonsuk, Paisan, additional, Cherwek, Hunter, additional, Cheung, Carol Y., additional, Singh, Praveer, additional, Kalpathy-Cramer, Jayashree, additional, Ostmo, Susan, additional, Eydelman, Malvina, additional, Chan, R.V. Paul, additional, Capone, Antonio, additional, Berrocal, Audina, additional, Binenbaum, Gil, additional, Blair, Michael, additional, Campbell, J. Peter, additional, Chen, Yi, additional, Dai, Shuan, additional, Ells, Anna, additional, Fielder, Alistair, additional, Fleck, Brian, additional, Good, William, additional, Hartnett, Mary Elizabeth, additional, Holmstrom, Gerd, additional, Kusaka, Shunji, additional, Kychenthal, Andres, additional, Lepore, Domenico, additional, Lorenz, Birgit, additional, Martinez-Castellanos, Maria Ana, additional, Ozdek, Sengul, additional, Popoola, Dupe, additional, Quinn, Graham, additional, Reynolds, James, additional, Shah, Parag, additional, Shapiro, Michael, additional, Stahl, Andreas, additional, Toth, Cynthia, additional, Vinekar, Anand, additional, Visser, Linda, additional, Wallace, David, additional, Wu, Wei-Chi, additional, Zhao, Peiquan, additional, Zin, Andrea, additional, Abramoff, M.Ichael, additional, Blumenkranz, Mark, additional, Myung, David, additional, Schuman, Joel S., additional, Shields, Carol, additional, Lee, Aaron, additional, Repka, Michael, additional, Ruamviboonsuk, Paisan, additional, and Cherwek, D. Hunter, additional

Published
2022
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50. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Author

Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne, Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, and Kohl, Susanne

Abstract

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetically confirmed ACHM patients, 385 (36.3%) of these carrying “likely disease-causing” variants in CNGA3. Compiling our own genetic data with those reported in the literature and in public databases, we further extend the CNGA3 variant spectrum to a total of 316 variants, 244 of which we interpreted as “likely disease-causing” according to ACMG/AMP criteria. We report 48 novel “likely disease-causing” variants, 24 of which are missense substitutions underlining the predominant role of this mutation class in the CNGA3 variant spectrum. In addition, we provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to further advance the pathogenicity assessment of the identified variants.

Published
2022
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