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Review

Insights into keratoconus from a genetic perspective

, PhD BSc(Hons) & , MBChB FRANZCO
Pages 146-154 | Received 30 Jul 2012, Accepted 30 Oct 2012, Published online: 15 Apr 2021

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OA Abdullah, WB El Gazzar, TI Salem & EA Al-Kamil. (2020) Role of extracellular matrix remodelling gene SNPs in keratoconus. British Journal of Biomedical Science 77:1, pages 13-18.
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Elvin Yildiz, Handan Bardak, Murat Gunay, Yavuz Bardak, Serhat Imamoglu, Halil Ozbas & Ozkan Bagci. (2017) Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus. Current Eye Research 42:10, pages 1396-1400.
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Mohammad Naderan, Mohammad Taher Rajabi, Parviz Zarrinbakhsh, Morteza Naderan & Anahita Bakhshi. (2016) Association between Family History and Keratoconus Severity. Current Eye Research 41:11, pages 1414-1418.
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Xiao-Dan Hao, Peng Chen, Zhao-Li Chen, Su-Xia Li & Ye Wang. (2015) Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population. Ophthalmic Genetics 36:2, pages 132-136.
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Nikolaos S. Kokolakis, Maria Gazouli, Irini P. Chatziralli, Chryssanthi Koutsandrea, Zisis Gatzioufas, Vasileios G. Peponis, Konstantinos D. Droutsas, Christos Kalogeropoulos, Nicholas Anagnou, Dimitrios Miltsakakis & Marilita M. Moschos. (2014) Polymorphism Analysis of COL4A3 and COL4A4 Genes in Greek Patients with Keratoconus. Ophthalmic Genetics 35:4, pages 226-228.
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Charles Nj Mcghee. (2013) Keratoconus: the arc of past, present and future. Clinical and Experimental Optometry 96:2, pages 137-139.
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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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Dan Z. Reinstein, Timothy J. Archer, Ryan S. Vida, Ronald H. Silverman & Raksha Urs. 2021. New Frontiers for the Treatment of Keratoconus. New Frontiers for the Treatment of Keratoconus 27 48 .
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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Rehab S. Abdul‐Maksoud, Rania A. Fouad, Tamer G. Elsayed, Reda A. Ibrahem & Amani E. Badawi. (2020) The impact of catalase and glutathione peroxidase‐1 genetic polymorphisms on their enzyme activities among Egyptian patients with keratoconus. The Journal of Gene Medicine 22:8.
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Jing Zhang, Yue Li, Yiqin Dai & Jianjiang Xu. (2020) Replication of the Association Between Keratoconus and Polymorphisms in PNPLA2 and MAML2 in a Han Chinese Population. Frontiers in Genetics 11.
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Bennet J. McComish, Srujana Sahebjada, Yelena Bykhovskaya, Colin E. Willoughby, Andrea J. Richardson, Abi Tenen, Jac C. Charlesworth, Stuart MacGregor, Paul Mitchell, Sionne E. M. Lucas, Richard A. Mills, David A. Mackey, Xiaohui Li, Jie Jin Wang, Richard A. Jensen, Jerome I. Rotter, Kent D. Taylor, Alex W. Hewitt, Yaron S. Rabinowitz, Paul N. Baird, Jamie E. Craig & Kathryn P. Burdon. (2020) Association of Genetic Variation With Keratoconus. JAMA Ophthalmology 138:2, pages 174.
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Mariam Lotfy Khaled & Yutao Liu. 2020. Genetics and Genomics of Eye Disease. Genetics and Genomics of Eye Disease 219 235 .
Michele Lanza, Giuditta Benincasa, Dario Costa & Claudio Napoli. (2019) Clinical Role of Epigenetics and Network Analysis in Eye Diseases: A Translational Science Review. Journal of Ophthalmology 2019, pages 1-11.
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Ke Cao, Srujana Sahebjada, Andrea J. Richardson & Paul N. Baird. (2019) Do age-related macular degeneration genes show association with keratoconus?. Eye and Vision 6:1.
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Saman Sargazi, Mahdiyeh Moudi, Milad Heidari Nia, Ramin Saravani & Hamid Malek Raisi. (2019) Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population. International Ophthalmology 39:11, pages 2621-2628.
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Tawfiq Froukh & Ammar Hawwari. (2019) Autosomal Recessive Non-syndromic Keratoconus: Homozygous Frameshift Variant in the Candidate Novel Gene GALNT14. Current Molecular Medicine 19:9, pages 683-687.
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Subhadeep Roy, Saumya Yadav, Tanushree Dasgupta, Shikha Chawla, Radhika Tandon & Sourabh Ghosh. (2019) Interplay between hereditary and environmental factors to establish an in vitro disease model of keratoconus. Drug Discovery Today 24:2, pages 403-416.
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