Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy von Maguire, Albert M., Bennett, Jean, Aleman, Elena M., Leroy, Bart P., Aleman, Tomas S.

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Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 t... von Bennett, Jean, Prof, Wellman, Jennifer, MSc, Marshall, Kathleen A, COT, McCague, Sarah, BA, Ashtari, Manzar, PhD, DiStefano-Pappas, Julie, BA, Elci, Okan U, PhD, Chung, Daniel C, DO, Sun, Junwei, MSc, Wright, J Fraser, PhD, Cross, Dominique R, MPH, Aravand, Puya, BA, Cyckowski, Laura L, BA, Bennicelli, Jeannette L, PhD, Mingozzi, Federico, PhD, Auricchio, Alberto, MD, Pierce, Eric A, MD, Ruggiero, Jason, MD, Leroy, Bart P, Prof, Simonelli, Francesca, Prof, High, Katherine A, MD, Maguire, Albert M, Prof

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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect von Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Han, Ian C., Hochstedler, Maria D., Pfeifer, Wanda L., Sohn, Elliott H., Taiel, Magali, Schwartz, Michael R., Biasutto, Patricia, Wit, Wilma de, Cheetham, Michael E., Adamson, Peter, Rodman, David M., Platenburg, Gerard, Tome, Maria D., Balikova, Irina, Nerinckx, Fanny, Zaeytijd, Julie De, Van Cauwenbergh, Caroline, Leroy, Bart P., Russell, Stephen R.

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Genetic testing and diagnosis of inherited retinal diseases von Lam, Byron L., Leroy, Bart P., Black, Graeme, Ong, Tuyen, Yoon, Dan, Trzupek, Karmen

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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variant... von Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R., de Ravel de l’Argentière, Thomy J. L., Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W. J., Cremers, Frans P. M., Leroy, Bart P., De Baere, Elfride

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families von Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride

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Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial von Maguire, Albert M, MD, High, Katherine A, Prof, Auricchio, Alberto, Prof, Wright, J Fraser, PhD, Pierce, Eric A, MD, Testa, Francesco, MD, Mingozzi, Federico, PhD, Bennicelli, Jeannette L, PhD, Ying, Gui-shuang, PhD, Rossi, Settimio, MD, Fulton, Ann, Prof, Marshall, Kathleen A, COT, Banfi, Sandro, MD, Chung, Daniel C, DO, Morgan, Jessica IW, PhD, Hauck, Bernd, PhD, Zelenaia, Olga, PhD, Zhu, Xiaosong, MD, Raffini, Leslie, MD, Coppieters, Frauke, PhD, De Baere, Elfride, PhD, Shindler, Kenneth S, MD, Volpe, Nicholas J, Prof, Surace, Enrico M, DVM, Acerra, Carmela, BA, Lyubarsky, Arkady, PhD, Redmond, T Michael, PhD, Stone, Edwin, Prof, Sun, Junwei, MBA, McDonnell, Jennifer Wellman, MS, Leroy, Bart P, Prof, Simonelli, Francesca, MD, Bennett, Jean, Prof

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome von Bujakowska, Kinga M, Zhang, Qi, Siemiatkowska, Anna M, Liu, Qin, Place, Emily, Falk, Marni J, Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I, Cremers, Frans P M, Leroy, Bart P, Gai, Xiaowu, Sahel, José-Alain, van den Born, L Ingeborgh, Collin, Rob W J, Zeitz, Christina, Audo, Isabelle, Pierce, Eric A

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The spectrum of ocular phenotypes caused by mutations in the BEST1 gene von Boon, Camiel J.F., Klevering, B. Jeroen, Leroy, Bart P., Hoyng, Carel B., Keunen, Jan E.E., den Hollander, Anneke I.

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S... von Gustafson, Margaret A, McCormick, Elizabeth M, Perera, Lalith, Longley, Matthew J, Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C, McCormack, Shana E, Laskin, Benjamin L, Leroy, Bart P, Ortiz-Gonzalez, Xilma R, Ellington, Meredith G, Copeland, William C, Falk, Marni J

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Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy von Thiadens, Alberta A.H.J., MD, PhD, Phan, T. My Lan, MD, Zekveld-Vroon, Renate C., MD, Leroy, Bart P., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Klaver, Caroline C.W., MD, PhD, Roosing, Susanne, Pott, Jan-Willem R, van Schooneveld, Mary J, van Moll-Ramirez, Norka, van Genderen, Maria M, Boon, Camiel J.F, den Hollander, Anneke I, Bergen, Arthur A.B, De Baere, Elfride, Cremers, Frans P.M, Lotery, Andrew J

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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement von Black, Graeme C., Sergouniotis, Panagiotis, Sodi, Andrea, Leroy, Bart P., Van Cauwenbergh, Caroline, Liskova, Petra, Gronskov, Karen, Klett, Artur, Kohl, Susanne, Taurina, Gita, Sukys, Marius, Haer-Wigman, Lonneke, Nowomiejska, Katarzyna, Marques, Joao Pedro, Leroux, Dorothee, Cremers, Frans P. M., De Baere, Elfride, Dollfus, Helene

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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination von Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride

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Visual Prognosis in USH2A -Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa von Pierrache, Laurence H.M., MD, Hartel, Bas P., MD, van Wijk, Erwin, PhD, Meester-Smoor, Magda A., PhD, Cremers, Frans P.M., PhD, de Baere, Elfride, MD, PhD, de Zaeytijd, Julie, MD, van Schooneveld, Mary J., MD, PhD, Cremers, Cor W.R.J., MD, PhD, Dagnelie, Gislin, PhD, Hoyng, Carel B., MD, PhD, Bergen, Arthur A., PhD, Leroy, Bart P., MD, PhD, Pennings, Ronald J.E., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Klaver, Caroline C.W., MD, PhD

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A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings von Saelaert, Marlies, Mertes, Heidi, Moerenhout, Tania, Van Cauwenbergh, Caroline, Leroy, Bart P., Devisch, Ignaas, De Baere, Elfride

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Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review von Dangreau, Lisa, Hosen, Mohammad J, De Zaeytijd, Julie, Leroy, Bart P, Coucke, Paul J, Vanakker, Olivier M

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Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families von Campens, Laurence, Vanakker, Olivier M, Trachet, Bram, Segers, Patrick, Leroy, Bart P, De Zaeytijd, Julie, Voet, Dirk, De Paepe, Anne, De Backer, Tine, De Backer, Julie

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The human visual cortex responds to gene therapy-mediated recovery of retinal function von Ashtari, Manzar, Cyckowski, Laura L, Monroe, Justin F, Marshall, Kathleen A, Chung, Daniel C, Auricchio, Alberto, Simonelli, Francesca, Leroy, Bart P, Maguire, Albert M, Shindler, Kenneth S, Bennett, Jean

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An update on the ocular phenotype in patients with pseudoxanthoma elasticum von Gliem, Martin, Zaeytijd, Julie De, Finger, Robert P, Holz, Frank G, Leroy, Bart P, Charbel Issa, Peter

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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy von de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., van Genderen, Maria M.

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