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Research Reports

Choroideremia: Effect of age on visual acuity in patients and female carriers

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Pages 66-73 | Received 10 May 2011, Accepted 31 Aug 2011, Published online: 07 Nov 2011

Keep up to date with the latest research on this topic with citation updates for this article.

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Razek Georges Coussa, Elliott H. Sohn, Ian C. Han, Sumit Parikh & Elias I. Traboulsi. (2021) Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations. Ophthalmic Genetics 42:4, pages 420-430.
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Grecia Yael Ortiz-Ramirez, Cristina Villanueva-Mendoza, Juan Carlos Zenteno Ruiz, Mariana Reyes & Vianney Cortés-González. (2020) Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene. Ophthalmic Genetics 41:6, pages 625-628.
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Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello & Giuseppe Querques. (2019) Choroideremia: Update On Clinical Features And Emerging Treatments. Clinical Ophthalmology 13, pages 2225-2231.
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Martin S Zinkernagel & Robert E MacLaren. (2015) Recent advances and future prospects in choroideremia. Clinical Ophthalmology 9, pages 2195-2200.
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Ioannis S Dimopoulos, Stephanie Chan, Robert E MacLaren & Ian M MacDonald. (2015) Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opinion on Orphan Drugs 3:7, pages 787-798.
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Articles from other publishers (35)

Yuning Song, Chunjie Chen, Yue Xie, Tengyang Sun, Ke Xu & Yang Li. (2022) Clinical and genetic findings in a Chinese cohort with choroideremia. Eye 37:3, pages 459-466.
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Toshiro Iwagawa, Hiroki Masumoto, Hitoshi Tabuchi, Kenzaburo Tani, Bruce R. Conklin & Sumiko Watanabe. (2022) Evaluation of CRISPR/Cas9 exon‐skipping vector for choroideremia using human induced pluripotent stem cell‐derived RPE. The Journal of Gene Medicine 25:2.
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Tomas S. Aleman, Rachel M. Huckfeldt, Leona W. Serrano, Denise J. Pearson, Grace K. Vergilio, Sarah McCague, Kathleen A. Marshall, Manzar Ashtari, Tu M. Doan, Carol A. Weigel-DiFranco, Bethany S. Biron, Xiao-Hong Wen, Daniel C. Chung, Emily Liu, Kevin Ferenchak, Jessica I.W. Morgan, Eric A. Pierce, Dean Eliott, Jean Bennett, Jason Comander & Albert M. Maguire. (2022) Adeno-Associated Virus Serotype 2–hCHM Subretinal Delivery to the Macula in Choroideremia. Ophthalmology 129:10, pages 1177-1191.
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Marie E. W. Torm, Christina Eckmann-Hansen, Søren K. Christensen & Michael Larsen. (2022) A UNILATERAL FOVEAL VITELLIFORM LESION IN A CHOROIDEREMIA CARRIER. RETINAL Cases & Brief Reports 16:5, pages 663-666.
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Jessica I. W. Morgan, Yu You Jiang, Grace K. Vergilio, Leona W. Serrano, Denise J. Pearson, Jean Bennett, Albert M. Maguire & Tomas S. Aleman. (2022) Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy . JAMA Ophthalmology 140:4, pages 411.
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Duygu Bozkaya, Heng Zou, Cindy Lu, Nicole W. Tsao & Byron L. Lam. (2022) Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis. BMC Ophthalmology 22:1.
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Ali Nouraeinejad. (2022) How to make a differential diagnosis between choroideremia and retinitis pigmentosa. The Pan-American Journal of Ophthalmology 4:1, pages 8.
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Ramesh Venkatesh, Nikitha Gurram Reddy, Ram Snehith, Jophy Philip Cherry, Arpitha Pereira, Akhila Sridharan, B. Poornachandra, Rohit Shetty, Naresh Kumar Yadav & Jay Chhablani. (2021) Study of retinal structural–functional relationship in choroideremia using fundus autofluorescence and optical coherence tomography. Eye 35:12, pages 3389-3396.
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Tiziana Fioretti, Valentina Di Iorio, Barbara Lombardo, Francesca De Falco, Armando Cevenini, Fabio Cattaneo, Francesco Testa, Lucio Pastore, Francesca Simonelli & Gabriella Esposito. (2021) Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription. Genes 12:8, pages 1111.
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Samantha R. De Silva, Gavin Arno, Anthony G. Robson, Ana Fakin, Nikolas Pontikos, Moin D. Mohamed, Alan C. Bird, Anthony T. Moore, Michel Michaelides, Andrew R. Webster & Omar A. Mahroo. (2021) The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. Progress in Retinal and Eye Research 82, pages 100898.
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Juan Lyn Ang, Alan F. Wright, Baljean Dhillon & Peter Cackett. (2021) Choroidal neovascularisation in a predicted female choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor. European Journal of Ophthalmology 31:1_suppl, pages 4-10.
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Christina Zeitz, Marco Nassisi, Caroline Laurent‐Coriat, Camille Andrieu, Fiona Boyard, Christel Condroyer, Vanessa Démontant, Aline Antonio, Marie‐Elise Lancelot, Helen Frederiksen, Barbara Kloeckener‐Gruissem, Said El‐Shamieh, Xavier Zanlonghi, Isabelle Meunier, Anne‐Françoise Roux, Saddek Mohand‐Saïd, José‐Alain Sahel & Isabelle Audo. (2021) CHM mutation spectrum and disease: An update at the time of human therapeutic trials . Human Mutation 42:4, pages 323-341.
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Liangbo L Shen, Aneesha Ahluwalia, Mengyuan Sun, Benjamin K Young, Holly K Grossetta Nardini & Lucian V Del Priore. (2021) Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes. British Journal of Ophthalmology 105:2, pages 271-278.
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Alessandro Abbouda, Filippo Avogaro, Mariya Moosajee & Enzo Maria Vingolo. (2021) Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies. Medicina 57:1, pages 64.
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Xiaoxu HanShijing WuHui LiTian ZhuXing WeiQi ZhouRuifang Sui. (2020) CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA. Retina 40:11, pages 2240-2253.
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Takaaki Hayashi, Shuhei Kameya, Kei Mizobuchi, Daiki Kubota, Sachiko Kikuchi, Kazutoshi Yoshitake, Atsushi Mizota, Akira Murakami, Takeshi Iwata & Tadashi Nakano. (2020) Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families. Scientific Reports 10:1.
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Tiziana Fioretti, Silvana Ungari, Maria Savarese, Fabio Cattaneo, Enza Pirozzi & Gabriella Esposito. (2020) A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient . Molecular Genetics & Genomic Medicine.
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William S. Tuten, Grace K. Vergilio, Gloria J. Young, Jean Bennett, Albert M. Maguire, Tomas S. Aleman, David H. Brainard & Jessica I.W. Morgan. (2019) Visual Function at the Atrophic Border in Choroideremia Assessed with Adaptive Optics Microperimetry. Ophthalmology Retina 3:10, pages 888-899.
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Valentina Di Iorio, Gabriella Esposito, Francesca De Falco, Rosa Boccia, Tiziana Fioretti, Raffaella Colucci, Giuseppe De Rosa, Paolo Melillo, Francesco Salvatore, Francesca Simonelli & Francesco Testa. (2019) CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia . Investigative Opthalmology & Visual Science 60:5, pages 1547.
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Abdullah A. Al-QahtaniShakoor Ba-Ali, Talal AlabduljalilAaron S. CoynerRachel C. PatelRichard G. WeleberAniz GirachSøren K. Christensen, Michael Larsen, Mark E. PennesiPaul Yang. (2018) SCLERAL PITS IN CHOROIDEREMIA. Retina 38:9, pages 1725-1730.
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Sanne M. van SchuppenMays TalibArthur A. BergenJacoline B. ten BrinkRalph J. FlorijnCamiel J. F. BoonMary J. van Schooneveld. (2018) LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION. Retina 38:9, pages 1713-1724.
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Ioannis S. Dimopoulos, Paul R. Freund, JACOB A. Knowles & Ian M. MacDonald. (2018) THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA. Retina 38:9, pages 1731-1742.
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Justine L. Cheng, Kelliann Farnsworth & Paul S. Bernstein. (2018) Choroideremia in a Woman With Turner Syndrome. JAMA Ophthalmology 136:9, pages 1076.
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Zhuo Wang, Acner Camino, Ahmed M. Hagag, Jie Wang, Richard G. Weleber, Paul Yang, Mark E. Pennesi, David Huang, Dengwang Li & Yali Jia. (2018) Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning. Journal of Biophotonics 11:5, pages e201700313.
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Andreas Mitsios, Adam M. Dubis & Mariya Moosajee. (2018) Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments. Therapeutic Advances in Ophthalmology 10, pages 251584141881749.
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Saber Imani, Iqra Ijaz, Marzieh Dehghan Shasaltaneh, Shangyi Fu, Jingliang Cheng & Junjiang Fu. (2018) Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. Mutation Research/Reviews in Mutation Research 775, pages 39-50.
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Alessandro Abbouda, Wei Sing Lim, Lina Sprogyte, Andrew R. Webster & Mariya Moosajee. (2017) Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia. Ophthalmic Surgery, Lasers and Imaging Retina 48:9, pages 711-716.
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Mays Talib, Leonoor Koetsier, Robert MacLaren & Camiel Boon. (2017) Outcome of Full-Thickness Macular Hole Surgery in Choroideremia. Genes 8:7, pages 187.
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Tomas S. Aleman, Grace Han, Leona W. Serrano, Nicole M. Fuerst, Emily S. Charlson, Denise J. Pearson, Daniel C. Chung, Anastasia Traband, Wei Pan, Gui-shuang Ying, Jean Bennett, Albert M. Maguire & Jessica I.W. Morgan. (2017) Natural History of the Central Structural Abnormalities in Choroideremia. Ophthalmology 124:3, pages 359-373.
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Paul R. Freund, Yuri V. Sergeev & Ian M. MacDonald. (2016) Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. Molecular Genetics & Genomic Medicine 4:3, pages 344-358.
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Immanuel P. Seitz, Ahmad Zhour, Susanne Kohl, Pablo Llavona, Tobias Peter, Barbara Wilhelm, Eberhart Zrenner, Marius Ueffing, Karl Ulrich Bartz-Schmidt & M. Dominik Fischer. (2015) Multimodal assessment of choroideremia patients defines pre-treatment characteristics. Graefe's Archive for Clinical and Experimental Ophthalmology 253:12, pages 2143-2150.
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Virginia Miraldi Utz, Razek Georges Coussa, Meghan J Marino, Aimee V Chappelow, Gayle J Pauer, Stephanie A Hagstrom & Elias I Traboulsi. (2014) Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease. British Journal of Ophthalmology 98:4, pages 513-518.
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Rachel M. HuckfeldtJean Bennett. (2014) Promising First Steps in Gene Therapy for Choroideremia. Human Gene Therapy 25:2, pages 96-97.
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Wadakarn Wuthisiri, Michelle D. Lingao, Jenina E. Capasso & Alex V. Levin. (2013) Lyonization in ophthalmology. Current Opinion in Ophthalmology 24:5, pages 389-397.
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Vidyullatha Vasireddy, Jason A. Mills, Rajashekhar Gaddameedi, Etiena Basner-Tschakarjan, Monika Kohnke, Aaron D. Black, Krill Alexandrov, Shangzhen Zhou, Albert M. Maguire, Daniel C. Chung, Helen Mac, Lisa Sullivan, Paul Gadue, Jeannette L. Bennicelli, Deborah L. French & Jean Bennett. (2013) AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models. PLoS ONE 8:5, pages e61396.
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