| For: | Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases 2015; 3(2): 112-124 [PMID: 25685757 DOI: 10.12998/wjcc.v3.i2.112] |
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| URL: | https://www.wjgnet.com/2307-8960/full/v3/i2/112.htm |
| Number | Citing Articles |
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Ke Xu, Yue Xie, Tengyang Sun, Xiaohui Zhang, Chunjie Chen, Yang Li. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. British Journal of Ophthalmology 2020; 104(7) doi: 10.1136/bjophthalmol-2019-314281
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| 2 |
Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. Genes 2017; 8(10) doi: 10.3390/genes8100280
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| 3 |
Tonya M. Schmitt, Mary Jean Ohns, Jennifer J. DeVries. Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children. The Journal for Nurse Practitioners 2023; 19(5) doi: 10.1016/j.nurpra.2023.104560
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Eun Hye Oh, Jae-Hwan Choi. Infantile nystagmus syndrome: Promise and pitfalls of genetic testing. Journal of Genetic Medicine 2024; 21(1) doi: 10.5734/JGM.2024.21.1.14
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Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides. Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. British Journal of Ophthalmology 2022; 106(4) doi: 10.1136/bjophthalmol-2020-318483
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Arshad M. Khanani, Mathew J. Thomas, Aamir A. Aziz, Christina Y. Weng, Carl J. Danzig, Glenn Yiu, Szilárd Kiss, Nadia K. Waheed, Peter K. Kaiser. Review of gene therapies for age-related macular degeneration. Eye 2022; 36(2) doi: 10.1038/s41433-021-01842-1
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Seo-Hee Cho, Ji Yun Song, Jinyeon Shin, Seonhee Kim. Neonatal disease environment limits the efficacy of retinal transplantation in the LCA8 mouse model. BMC Ophthalmology 2016; 16(1) doi: 10.1186/s12886-016-0368-0
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Guylène Le Meur, Pierre Lebranchu, Fanny Billaud, Oumeya Adjali, Sébastien Schmitt, Stéphane Bézieau, Yann Péréon, Romain Valabregue, Catherine Ivan, Christophe Darmon, Philippe Moullier, Fabienne Rolling, Michel Weber. Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. Molecular Therapy 2018; 26(1) doi: 10.1016/j.ymthe.2017.09.014
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Fahimeh Beigi, Masoud Manaviat, Nasrin Ghasemi. Identification of Two CRB1 and AHI1 Pathogenetic Variants in an Iranian Family with Two Syndromic and Non-Syndromic Inherited Retinal Disorders. International Journal of Medical Research and Innovation 2025; 2(1) doi: 10.11648/j.ijmri.20260201.13
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Oscar F. Chacón-Camacho, Leopoldo A. García-Montaño, Juan C Zenteno. The clinical implications of molecular monitoring and analyses of inherited retinal diseases. Expert Review of Molecular Diagnostics 2017; 17(11) doi: 10.1080/14737159.2017.1384314
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Nitya T. Rao, Alexander Sumaroka, Arlene J. Santos, Kelsey M. Parchinski, Mariejel L. Weber, Albert M. Maguire, Artur V. Cideciyan, Tomas S. Aleman.
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| 14 |
Sonal Dalvi, Chad A. Galloway, Ruchira Singh. Pluripotent Stem Cells in Eye Disease Therapy. Advances in Experimental Medicine and Biology 2019; 1186 doi: 10.1007/978-3-030-28471-8_1
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Lucy H. Maynard, Olivier Humbert, Christopher W. Peterson, Hans-Peter Kiem. Genome editing in large animal models. Molecular Therapy 2021; 29(11) doi: 10.1016/j.ymthe.2021.09.026
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N.N. Srikrupa, S. Srilekha, P. Sen, T. Arokiasamy, S. Meenakshi, M. Bhende, S. Kapur, N. Soumittra. Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing. Clinical Genetics 2018; 93(2) doi: 10.1111/cge.13159
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| 17 |
Sascha Werner, Pilar Okenve-Ramos, Philip Hehlert, Sihem Zitouni, Pranjali Priya, Susana Mendonça, Anje Sporbert, Christian Spalthoff, Martin C Göpfert, Swadhin Chandra Jana, Mónica Bettencourt-Dias. IFT88 maintains sensory function by localising signalling proteins alongDrosophilacilia. Life Science Alliance 2024; 7(5) doi: 10.26508/lsa.202302289
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| 18 |
Bohdan Kousal, Lubica Dudakova, Renata Gaillyova, Michaela Hejtmankova, Pavel Diblik, Michel Michaelides, Petra Liskova. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Graefe's Archive for Clinical and Experimental Ophthalmology 2016; 254(9) doi: 10.1007/s00417-016-3358-2
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| 19 |
Dan Meng, Junmin Pan. Chlamydomonas: Biotechnology and Biomedicine. Microbiology Monographs 2017; 31 doi: 10.1007/978-3-319-66360-9_4
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| 20 |
Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye, Karl-Wilhelm Koch. The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS. PLOS ONE 2020; 15(4) doi: 10.1371/journal.pone.0231115
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| 21 |
Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl. Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report. Egyptian Journal of Medical Human Genetics 2022; 23(1) doi: 10.1186/s43042-022-00217-9
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| 22 |
Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi, Ali Salehi, Mehrdad Noruzinia. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. European Journal of Medical Genetics 2020; 63(3) doi: 10.1016/j.ejmg.2019.103750
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| 23 |
Francesco Testa, Andrea Sodi, Sabrina Signorini, Valentina Di Iorio, Vittoria Murro, Raffaella Brunetti-Pierri, Enza Maria Valente, Marianthi Karali, Paolo Melillo, Sandro Banfi, Francesca Simonelli. Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study. Investigative Opthalmology & Visual Science 2021; 62(9) doi: 10.1167/iovs.62.9.1
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| 24 |
Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun. Review of Ocular Manifestations of Joubert Syndrome. Genes 2018; 9(12) doi: 10.3390/genes9120605
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| 25 |
Evren Gumus, Armagan Ozgur. A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. Fetal and Pediatric Pathology 2020; 39(3) doi: 10.1080/15513815.2019.1644687
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| 26 |
Nicole C. L. Noel, Ian M. MacDonald, W. Ted Allison. Zebrafish Models of Photoreceptor Dysfunction and Degeneration. Biomolecules 2021; 11(1) doi: 10.3390/biom11010078
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| 27 |
Chu-Hsuan Huang, Chung-May Yang, Chang-Hao Yang, Yu-Chih Hou, Ta-Ching Chen. Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes 2021; 12(8) doi: 10.3390/genes12081261
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| 28 |
Aamir A. Aziz, Hannah Khan, Zoha A. Khanani, Mathew J. Thomas, Huma Khan, Abrahim Ahmed, Greggory M. Gahn, Arshad M. Khanani. Review of Gene Therapy Clinical Trials for Retinal Diseases. International Ophthalmology Clinics 2024; 64(1) doi: 10.1097/IIO.0000000000000517
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| 29 |
Morgan L Maeder, Charles A Gersbach. Genome-editing Technologies for Gene and Cell Therapy. Molecular Therapy 2016; 24(3) doi: 10.1038/mt.2016.10
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| 30 |
Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shamieh. Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. BMC Ophthalmology 2024; 24(1) doi: 10.1186/s12886-024-03419-4
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| 31 |
Yinuo Wu, Biao Ma, Chang Liu, Dangdang Li, Guangchao Sui. Pathological Involvement of Protein Phase Separation and Aggregation in Neurodegenerative Diseases. International Journal of Molecular Sciences 2024; 25(18) doi: 10.3390/ijms251810187
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| 32 |
Jie Shi, Ke Xu, Jian-Ping Hu, Yue Xie, Xin Zhang, Xiao-Hui Zhang, Zi-Bing Jin, Yang Li. Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy. Journal of Clinical Medicine 2021; 10(22) doi: 10.3390/jcm10225229
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| 33 |
Thomas C. Hohman. Pharmacologic Therapy of Ocular Disease. Handbook of Experimental Pharmacology 2016; 242 doi: 10.1007/164_2016_91
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| 34 |
Jesus Lima Barrientos, Anahi Rojas Huerta, Angel Perez Mendoza, Barbara A Abreu Lopez, Vanessa Pamela Salolin Vargas, Oxiris Yexalen Garcia Gonzalez, Mauricio A Saldaña Ruiz, Edna Diarte, Angela Juliet Torijano Sarria. The Relationship Between Gut Microbiome and Ophthalmologic Diseases: A Comprehensive Review. Cureus 2024; doi: 10.7759/cureus.66808
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| 35 |
Gaia Pasqualetto, Elisa Pileggi, Martin Schepelmann, Carmine Varricchio, Malgorzata Rozanowska, Andrea Brancale, Marcella Bassetto. Ligand-based rational design, synthesis and evaluation of novel potential chemical chaperones for opsin. European Journal of Medicinal Chemistry 2021; 226 doi: 10.1016/j.ejmech.2021.113841
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| 36 |
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan. Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. Eye and Vision 2021; 8(1) doi: 10.1186/s40662-021-00243-5
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Fernanda Porto, Evan Jones, Justin Branch, Zachry Soens, Igor Maia, Isadora Sena, Shirley Sampaio, Renata Simões, Rui Chen. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes 2017; 8(12) doi: 10.3390/genes8120355
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Xue Du, Anna G. Butler, Holly Y. Chen. Cell-cell interaction in the pathogenesis of inherited retinal diseases. Frontiers in Cell and Developmental Biology 2024; 12 doi: 10.3389/fcell.2024.1332944
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YOO JIN LEE, HYUN CHUL JEONG, JEONG HUN KIM, DONG HYUN JO. Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis. American Journal of Ophthalmology 2025; 271 doi: 10.1016/j.ajo.2024.12.016
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Joshua Schimmer, Steven Breazzano. Investor Outlook: Focus on Upcoming LCA2 Gene Therapy Phase III Results. Human Gene Therapy Clinical Development 2015; 26(3) doi: 10.1089/humc.2015.29001.sch
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Jingna He, Wai Kit Chu, Li Ma, Calvin C. P. Pang, Guy L. J. Chen. Advances in Vision Research, Volume II. Essentials in Ophthalmology 2019; doi: 10.1007/978-981-13-0884-0_17
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| 47 |
David A. Parfitt, Amelia Lane, Conor M. Ramsden, Amanda-Jayne F. Carr, Peter M. Munro, Katarina Jovanovic, Nele Schwarz, Naheed Kanuga, Manickam N. Muthiah, Sarah Hull, Jean-Marc Gallo, Lyndon da Cruz, Anthony T. Moore, Alison J. Hardcastle, Peter J. Coffey, Michael E. Cheetham. Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell 2016; 18(6) doi: 10.1016/j.stem.2016.03.021
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Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige. Ocular manifestations of renal ciliopathies. Pediatric Nephrology 2024; 39(5) doi: 10.1007/s00467-023-06096-5
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Goran Kosec, Christiane Kafarnik, Ghislaine Sayers, Emma Jane Scurrell, Wallace James Carter. Outer retinal degeneration in two closely related Goeldi's monkeys (Callimico goeldii). Veterinary Ophthalmology 2020; 23(2) doi: 10.1111/vop.12721
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Alejandro J. Roman, Artur V. Cideciyan, Vivian Wu, Abraham A. Mascio, Arun K. Krishnan, Alexandra V. Garafalo, Samuel G. Jacobson. Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis. BMC Ophthalmology 2022; 22(1) doi: 10.1186/s12886-022-02475-y
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Enrique Gallego-Colon, Maria Villalba, Joanne Tonkin, Francisco Cruz, Juan Antonio Bernal, Luis J Jimenez-Borregureo, Michael D Schneider, Enrique Lara-Pezzi, Nadia Rosenthal. Intravenous delivery of adeno-associated virus 9-encoded IGF-1Ea propeptide improves post-infarct cardiac remodelling. npj Regenerative Medicine 2016; 1(1) doi: 10.1038/npjregenmed.2016.1
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Rahel Zulliger, Shannon M. Conley, Muna I. Naash. Non-viral therapeutic approaches to ocular diseases: An overview and future directions. Journal of Controlled Release 2015; 219 doi: 10.1016/j.jconrel.2015.10.007
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Brenda de Oliveira da Silva. Principais achados em um paciente com diagnóstico de Amaurose Congênita de Leber. Revista Brasileira de Oftalmologia 2023; 82 doi: 10.37039/1982.8551.20230010
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Mohamed A. Faynus, Dennis O. Clegg. Current Progress in iPSC Disease Modeling. 2022; doi: 10.1016/B978-0-323-85765-9.00005-9
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Arun K. Krishnan, Samuel G. Jacobson, Alejandro J. Roman, Bhavya S. Iyer, Alexandra V. Garafalo, Elise Héon, Artur V. Cideciyan. Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function. Vision Research 2020; 168 doi: 10.1016/j.visres.2020.01.006
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Hung-Da Chou, An-Lun Wu, Yu-Chun Cheng, Nan-Kai Wang. Hereditary Chorioretinal Disorders. Retina Atlas 2020; doi: 10.1007/978-981-15-0414-3_1
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