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A new perspective on the genetics of keratoconus: why have we not been more successful?

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Pages 158-174 | Received 08 Jun 2017, Accepted 06 Oct 2017, Published online: 07 Nov 2017

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Alessandro Garcia Lopes, Gildásio Castello de Almeida Jr, Marcos Paulo Miola, Ronan Marques Teixeira, Francielly Camilla Bazilio Laurindo Pires, Rodolfo Andrade Miani, Luiz Carlos de Mattos, Cinara Cássia Brandão & Lilian Castiglioni. (2022) Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus. Ophthalmic Genetics 43:1, pages 73-79.
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Nefeli Eleni Kounatidou, Georgios Kondylis, Olga Klavdianou, Nandini Venkateswaran, Eleni Fryssira & Sotiria Palioura. (2023) Progressive Keratoconus in a Patient With Severe Pectus Excavatum and a Cartilage Oligomeric Matrix Protein Gene Mutation: A Case Report. Eye & Contact Lens: Science & Clinical Practice.
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Srujana Sahebjada, Elsie Chan, Gerard Sutton, Chi Pui Calvin Pang, Christopher Hodge, Elaine W. Chong, Faouzia Zemani-Fodil, Steve Wiffen, Grant Snibson, Nigel Morlet, Chameen Samarawickrama, John Males, Richard Mills, Peter Beckingsale, Kathryn Burdon, Vishal Jhanji, Pravin Krishna, Colin Chan, Abi Tenen, Athena Roufas, Tess Huynh, Rasik Vajpayee, Aanchal Gupta, Marcelo Reyes Silva, Mehran Zarei, Senthil Kumaran, Guofu Huang, Berthold Seitz, Shengwei Ren, Charles McGhee, Nigel Barker, Yves Kerdraon, Sundaram Natarajan, Wafaa Meteoukki, Andrea Ang, Mark Daniell & Paul N. Baird. (2023) Keratoconus International Consortium (KIC)- advancing keratoconus research. BMC Ophthalmology 23:1.
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Xiao-Dan Hao, Yi-Zhi Yao, Kai-Ge Xu, Bin Dong, Wen-Hua Xu & Jing-Jing Zhang. (2022) Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts. Investigative Opthalmology & Visual Science 63:13, pages 1.
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C. Debono, D. Smadja, V. Saunier & D. Touboul. (2022) Sequential intracorneal ring segment implantation followed by transepithelial phototherapeutic keratectomy and corneal cross-linking. Journal Français d'Ophtalmologie 45:10, pages 1117-1125.
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Liyan Xu, Kaili Yang, Meng Zhu, Shanshan Yin, Yuwei Gu, Qi Fan, Yawen Wang, Chenjiu Pang & Shengwei Ren. (2022) Trio-based exome sequencing broaden the genetic spectrum in keratoconus. Experimental Eye Research, pages 109342.
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Janneau L J Claessens, Daniel A Godefrooij, Gerko Vink, Laurence E Frank & Robert P L Wisse. (2022) Nationwide epidemiological approach to identify associations between keratoconus and immune-mediated diseases. British Journal of Ophthalmology 106:10, pages 1350-1354.
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Yawen Wang, Liyan Xu, Shaopei Wang, Kaili Yang, Yuwei Gu, Qi Fan, Qing Wang, Meng Zhu, Kai Guo, Chenjiu Pang, Shengwei Ren & Dongqing Zhao. (2022) Heritability of Corneal Parameters in Nuclear Families With Keratoconus. Translational Vision Science & Technology 11:7, pages 13.
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Theo G. Seiler, Maya Mueller & Tiago Mendes Baiao. (2022) Repeatability and Comparison of Corneal Tomography in Mild to Severe Keratoconus Between the Anterior Segment OCT MS-39 and Pentacam HR. Journal of Refractive Surgery 38:4, pages 250-255.
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Xiaorui Zhao, Yifei Yuan, Tong Sun, Yu Zhang & Yueguo Chen. (2022) Associations Between Keratoconus and the Level of Sex Hormones: A Cross-Sectional Study. Frontiers in Medicine 9.
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Xiao-Dan Hao, Hua Gao, Wen-Hua Xu, Chan Shan, Ying Liu, Zhi-Xia Zhou, Kun Wang & Pei-Feng Li. (2022) Systematically Displaying the Pathogenesis of Keratoconus via Multi-Level Related Gene Enrichment-Based Review. Frontiers in Medicine 8.
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Valentin Navel, Jean Malecaze, Corinne Belville, Héléna Choltus, Fanny Henrioux, Frédéric Dutheil, François Malecaze, Frédéric Chiambaretta, Loïc Blanchon & Vincent Sapin. (2022) Dysregulation of Receptor for Advanced Glycation End Products (RAGE) Expression as a Biomarker of Keratoconus. Disease Markers 2022, pages 1-11.
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Kristin M. Ates, Amy J. Estes & Yutao Liu. (2021) Potential underlying genetic associations between keratoconus and diabetes mellitus. Advances in Ophthalmology Practice and Research 1:1, pages 100005.
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Valentin Navel, Jean Malecaze, Bruno Pereira, Julien S. Baker, François Malecaze, Vincent Sapin, Frédéric Chiambaretta & Frédéric Dutheil. (2020) Oxidative and antioxidative stress markers in keratoconus: a systematic review and meta‐analysis. Acta Ophthalmologica 99:6.
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Otávio de Azevedo Magalhães, Mauro Cabral Gonçalves & Damien Gatinel. (2021) The role of environment in the pathogenesis of keratoconus. Current Opinion in Ophthalmology 32:4, pages 379-384.
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Shihao Chen, Xing-Yong Li, Jia-Jia Jin, Ren-Juan Shen, Jian-Yang Mao, Fei-Fei Cheng, Zhen-Ji Chen, Emmanouela Linardaki, Stavroula Voulgaraki, Ioannis M. Aslanides & Zi-Bing Jin. (2021) Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals. Frontiers in Cell and Developmental Biology 9.
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Yu Meng Wang & Calvin C.P. Pang. 2021. Ocular Surface Diseases - Some Current Date on Tear Film Problem and Keratoconic Diagnosis. Ocular Surface Diseases - Some Current Date on Tear Film Problem and Keratoconic Diagnosis.
Yaron S. Rabinowitz, Virgilio Galvis, Alejandro Tello, Daniela Rueda & Juan Daniel García. (2021) Genetics vs chronic corneal mechanical trauma in the etiology of keratoconus. Experimental Eye Research 202, pages 108328.
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Alessandro Garcia Lopes, Gildásio Castello de Almeida Júnior, Ronan Marques Teixeira, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos & Lilian Castiglioni. (2020) Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population. BMC Research Notes 13:1.
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Xiao-dan Hao, Xiu-nian Chen, Yang-yang Zhang, Peng Chen, Chao Wei, Wei-yun Shi & Hua Gao. (2020) Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin’s family by multi-omics analysis. Orphanet Journal of Rare Diseases 15:1.
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Justyna A. Karolak, Barbara Ginter-Matuszewska, Katarzyna Tomela, Michal Kabza, Dorota M. Nowak-Malczewska, Malgorzata Rydzanicz, Piotr Polakowski, Jacek P. Szaflik & Marzena Gajecka. (2020) Further evaluation of differential expression of keratoconus candidate genes in human corneas. PeerJ 8, pages e9793.
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Yoshikatsu Hosoda, Masahiro Miyake, Akira Meguro, Yasuharu Tabara, Sachiko Iwai, Naoko Ueda-Arakawa, Eri Nakano, Yuki Mori, Munemitsu Yoshikawa, Hideo Nakanishi, Chiea-Chuen Khor, Seang-Mei Saw, Ryo Yamada, Fumihiko Matsuda, Ching-Yu Cheng, Nobuhisa Mizuki, Akitaka Tsujikawa, Kenji Yamashiro, Yasuharu Tabara, Takahisa Kawaguchi, Kazuya Setoh, Fumihiko Matsuda, Yoshimitsu Takahashi, Takeo Nakayama & Shinji Kosugi. (2020) Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson. Communications Biology 3:1.
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Einat Shneor, Joseph Frucht‐Pery, Edna Granit & Ariela Gordon‐Shaag. (2020) The prevalence of corneal abnormalities in first‐degree relatives of patients with keratoconus: a prospective case‐control study. Ophthalmic and Physiological Optics 40:4, pages 442-451.
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Giulio Ferrari & Paolo Rama. (2020) The keratoconus enigma: A review with emphasis on pathogenesis. The Ocular Surface 18:3, pages 363-373.
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Justyna A. Karolak, Tomasz Gambin, Malgorzata Rydzanicz, Piotr Polakowski, Rafal Ploski, Jacek P. Szaflik & Marzena Gajecka. (2020) Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus. PeerJ 8, pages e8982.
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Anastasia Marie Litke, Sarah Samuelson, Kerry R. Delaney, Yves Sauvé & Robert L. Chow. (2018) Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease . Investigative Opthalmology & Visual Science 59:15, pages 5824.
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Rabab Sharif, Sashia Bak-Nielsen, Jesper Hjortdal & Dimitrios Karamichos. (2018) Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein. Progress in Retinal and Eye Research 67, pages 150-167.
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Inger Heleen Noor, Theo G. Seiler, Kai Noor & Theo Seiler. (2018) Continued Long-term Flattening After Corneal Cross-linking for Keratoconus. Journal of Refractive Surgery 34:8, pages 567-570.
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