Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

by Frans P. M. Cremers, Camiel J. F. Boon, Kinga Bujakowska, Christina Zeitz
Published 2018-04-01

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

by Christina Zeitz, Cécile Méjécase, Mathilde Stévenard, Christelle Michiels, Isabelle Audo, Michael F. Marmor
Published 2018-01-01

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

by Angélique Terray, Amélie Slembrouck, Céline Nanteau, Christel Chondroyer, Christina Zeitz, José-Alain Sahel, Isabelle Audo, Sacha Reichman, Olivier Goureau
Published 2017-10-01

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

by Sachiko Kikuchi, Shuhei Kameya, Kiyoko Gocho, Said El Shamieh, Keiichiro Akeo, Yuko Sugawara, Kunihiko Yamaki, Christina Zeitz, Isabelle Audo, Hiroshi Takahashi
Published 2015-01-01

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to <i>Gpr179</i> Deficiency

by Elise Orhan, Marion Neuillé, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2021-04-01

Novel Missense Mutations in <i>BEST1</i> Are Associated with Bestrophinopathies in Lebanese Patients

by Lama Jaffal, Wissam H. Joumaa, Alexandre Assi, Charles Helou, Christel Condroyer, Maya El Dor, Georges Cherfan, Christina Zeitz, Isabelle Audo, Kazem Zibara, Said El Shamieh
Published 2019-02-01

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

by Marco Nassisi, Carlo Lavia, Saddek Mohand-Said, Vasily Smirnov, Aline Antonio, Christel Condroyer, Serge Sancho, Juliette Varin, Alain Gaudric, Christina Zeitz, José-Alain Sahel, Isabelle Audo
Published 2021-02-01

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

by Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, Cécile Méjécase, Amélie Slembrouck-Brec, Christel Condroyer, Christelle Michiels, José-Alain Sahel, Sacha Reichman, Christina Zeitz, Olivier Goureau, Isabelle Audo
Published 2019-12-01

Genotypic and phenotypic characterization of P23H line 1 rat model.

by Elise Orhan, Deniz Dalkara, Marion Neuillé, Christophe Lechauve, Christelle Michiels, Serge Picaud, Thierry Léveillard, José-Alain Sahel, Muna I Naash, Matthew M Lavail, Christina Zeitz, Isabelle Audo
Published 2015-01-01

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

by Marion Neuillé, Said El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie-Elise Lancelot, Christel Condroyer, Kinga Bujakowska, Olivier Poch, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2014-01-01

Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

by Marco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, Aline Antonio, Christel Condroyer, Cécile Méjécase, Juliette Varin, Juliette Wohlschlegel, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2019-10-01

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

by Said El Shamieh, Elise Boulanger-Scemama, Marie-Elise Lancelot, Aline Antonio, Vanessa Démontant, Christel Condroyer, Mélanie Letexier, Jean-Paul Saraiva, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2015-01-01

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

by Elise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2019-09-01

Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night Blindness

by Kate E. Leahy, Tom Wright, Monika K. Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J. Raymond Buncic, Ajoy Vincent
Published 2021-02-01

Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

by Shomi S. Bhattacharya, Emeline F. Nandrot, José-Alain Sahel, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Giovanna Alfano, Maria Luz Bellido Diaz, Abhay Krishna, Isabelle Audo, Jordan A. Doumanov, Christina Zeitz, Paloma Dominguez Gimenez
Published 2013-07-01

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy

by Said El Shamieh, Cécile Méjécase, Matteo Bertelli, Angélique Terray, Christelle Michiels, Christel Condroyer, Stéphane Fouquet, Maxime Sadoun, Emmanuelle Clérin, Binqian Liu, Thierry Léveillard, Olivier Goureau, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2017-10-01

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

by Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2018-07-01

Substantial restoration of night vision in adult mice with congenital stationary night blindness

by Juliette Varin, Nassima Bouzidi, Gregory Gauvain, Corentin Joffrois, Melissa Desrosiers, Camille Robert, Miguel Miranda De Sousa Dias, Marion Neuillé, Christelle Michiels, Marco Nassisi, José-Alain Sahel, Serge Picaud, Isabelle Audo, Deniz Dalkara, Christina Zeitz
Published 2021-09-01

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy.

by Juliette Varin, Margaret M Reynolds, Nassima Bouzidi, Sarah Tick, Juliette Wohlschlegel, Ondine Becquart, Christelle Michiels, Olivier Dereure, Robert M Duvoisin, Catherine W Morgans, José-Alain Sahel, Quentin Samaran, Bernard Guillot, José S Pulido, Isabelle Audo, Christina Zeitz
Published 2020-01-01

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

by Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2016-01-01