Search Results - "Audo, Isabelle"

Partial recovery of visual function in a blind patient after optogenetic therapy by Sahel, José-Alain, Boulanger-Scemama, Elise, Pagot, Chloé, Arleo, Angelo, Galluppi, Francesco, Martel, Joseph N., Esposti, Simona Degli, Delaux, Alexandre, de Saint Aubert, Jean-Baptiste, de Montleau, Caroline, Gutman, Emmanuel, Audo, Isabelle, Duebel, Jens, Picaud, Serge, Dalkara, Deniz, Blouin, Laure, Taiel, Magali, Roska, Botond

“…Optogenetics may enable mutation-independent, circuit-specific restoration of neuronal function in neurological diseases. Retinitis pigmentosa is a…”
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Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms by Zeitz, Christina, Robson, Anthony G., Audo, Isabelle

“…Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with…”
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Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis by Touhami, Sara, Audo, Isabelle, Terrada, Céline, Gaudric, Alain, LeHoang, Phuc, Touitou, Valérie, Bodaghi, Bahram

“…Masquerade syndromes represent a large set of ophthalmological entities that mimic inflammatory conditions. Any delay in their diagnosis may be correlated with…”
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The genetics of rod-cone dystrophy in Arab countries: a systematic review by Jaffal, Lama, Joumaa, Hawraa, Mrad, Zamzam, Zeitz, Christina, Audo, Isabelle, El Shamieh, Said

“…Since a substantial difference in the prevalence of genetic causes of rod-cone dystrophy (RCD) was found among different populations, we conducted a systematic…”
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Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa by Nassisi, Marco, Lavia, Carlo, Mohand-Said, Saddek, Smirnov, Vasily, Antonio, Aline, Condroyer, Christel, Sancho, Serge, Varin, Juliette, Gaudric, Alain, Zeitz, Christina, Sahel, José-Alain, Audo, Isabelle

“…Thirty-eight patients from 37 families with retinitis pigmentosa (RP) underwent macular 6 × 6-mm swept-source optical coherence tomography angiography…”
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Characterization of SSBP1-related optic atrophy and foveopathy by Meunier, Isabelle, Bocquet, Béatrice, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Arndt, Carl, Picot, Marie Christine, Dollfus, Hélène, Charif, Majida, Audo, Isabelle, Huguet, Hélèna, Zanlonghi, Xavier, Lenaers, Guy

“…Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1 . To distinguish between the classical OPA1 -related…”
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Impact of Retinitis Pigmentosa on Quality of Life, Mental Health and Employment Among Young Adults by Chaumet-Riffaud, Anne-Elisabeth, Chaumet-Riffaud, Philippe, Cariou, Anaelle, Devisme, Céline, Audo, Isabelle, Sahel, José-Alain, Mohand-Said, Saddek

“…Abstract Purpose To determine the relationship between visual function and quality of life, education, mental health and employment among young adults with…”
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Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9) by Strauss, Rupert W, Muñoz, Beatriz, Ho, Alexander, Jha, Anamika, Michaelides, Michel, Cideciyan, Artur V, Audo, Isabelle, Birch, David G, Hariri, Amir H, Nittala, Muneeswar G, Sadda, SriniVas, West, Sheila, Scholl, Hendrik P N

“…Sensitive outcome measures for disease progression are needed for treatment trials of Stargardt disease. To describe the yearly progression rate of atrophic…”
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Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes by Meunier, Isabelle, MD, PhD, Manes, Gaël, PhD, Bocquet, Béatrice, PhD, Marquette, Virginie, PhD, Baudoin, Corinne, Puech, Bernard, MD, Defoort-Dhellemmes, Sabine, MD, Audo, Isabelle, MD, PhD, Verdet, Robert, MD, Arndt, Carl, MD, PhD, Zanlonghi, Xavier, MD, Le Meur, Guylène, MD, PhD, Dhaenens, Claire-Marie, PharmD, PhD, Hamel, Christian P., MD, PhD

“…Purpose To assess the frequency of and to characterize the clinical spectrum and optical coherence tomography findings of vitelliform macular dystrophy linked…”
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Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia by Wilmet, Baptiste, Callebert, Jacques, Duvoisin, Robert, Goulet, Ruben, Tourain, Christophe, Michiels, Christelle, Frederiksen, Helen, Schaeffel, Frank, Marre, Olivier, Sahel, José Alain, Audo, Isabelle, Picaud, Serge, Zeitz, Christina

“…Mutations in are one of the most common causes of autosomal recessive complete congenital stationary night blindness (cCSNB). This retinal disease is…”
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LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells by Neuillé, Marion, Cao, Yan, Caplette, Romain, Guerrero-Given, Debbie, Thomas, Connon, Kamasawa, Naomi, Sahel, José-Alain, Hamel, Christian P, Audo, Isabelle, Picaud, Serge, Martemyanov, Kirill A, Zeitz, Christina

“…Mutations in LRIT3 lead to complete congenital stationary night blindness (cCSNB). Using a cCSNB mouse model lacking Lrit3 (nob6), we recently have shown that…”
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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome by 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

“…Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport…”
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Retrospective Natural History Study of RPGR -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease by Nassisi, Marco, De Bartolo, Giuseppe, Mohand-Said, Saddek, Condroyer, Christel, Antonio, Aline, Lancelot, Marie-Elise, Bujakowska, Kinga, Smirnov, Vasily, Pugliese, Thomas, Neidhardt, John, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

“…Variants in the X-linked retinitis pigmentosa GTPase regulator gene ( and, specifically, in its retinal opening reading frame-15 isoform ( ) may cause rod-cone…”
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The research output of rod-cone dystrophy genetics by Jaffal, Lama, Mrad, Zamzam, Ibrahim, Mariam, Salami, Ali, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said

“…Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output…”
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Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2 by Kong, Xiangrong, Ibrahim-Ahmed, Mohamed, Bittencourt, Millena G., Strauss, Rupert W., Birch, David G., Cideciyan, Artur V., Ervin, Ann-Margaret, Ho, Alexander, Sunness, Janet S., Audo, Isabelle S., Michaelides, Michel, Zrenner, Eberhart, Sadda, SriniVas, Ip, Michael S., West, Sheila, Scholl, Hendrik P.N.

“…To estimate and compare cross-sectional scotopic versus mesopic macular sensitivity losses measured by microperimetry, and to report and compare the…”
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Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9 by Ben yacoub, Tasnim, Letellier, Camille, Wohlschelegel, Juliette, Condroyer, Christel, Slembrouck-Brec, Amélie, Goureau, Olivier, Zeitz, Christina, Audo, Isabelle

“…The ITM2B-related retinal dystrophy (ITM2B-RD) was identified within patients carrying the autosomal dominant variant [c.782A > C, p.(Glu261Ala)] in ITM2B from…”
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Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines by Amprou, Andréa, Yacoub, Tasnim Ben, Letellier, Camille, Degaetano, Vincenzo, Méjécase, Cécile, Pormehr, Leila Azizzadeh, Condroyer, Christel, Slembrouck-Brec, Amélie, Wohlschlegel, Juliette, Goureau, Olivier, Zeitz, Christina, Audo, Isabelle

“…A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy…”
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Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4 -Related Retinal Dystrophy by Smirnov, Vasily M, Wilmet, Baptiste, Nassisi, Marco, Condroyer, Christel, Antonio, Aline, Andrieu, Camille, Devisme, Céline, Sancho, Serge, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

“…Inherited retinal diseases (IRD) are a group of heterogeneous disorders, most of which lead to blindness with limited therapeutic options. Pathogenic variants…”
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Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease by Nassisi, Marco, Mohand-Saïd, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Méjécase, Cécile, Varin, Juliette, Wohlschlegel, Juliette, Dhaenens, Claire-Marie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

“…We investigated the prevalence of reported deep-intronic variants in a French cohort of 70 patients with Stargardt disease harboring a monoallelic pathogenic…”
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation by Boulanger-Scemama, Elise, El Shamieh, Said, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Souied, Eric, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

“…Cone and cone-rod dystrophies are clinically and genetically heterogeneous inherited retinal disorders with predominant cone impairment. They should be…”
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