PURPOSE: To highlight major advancements in ocular genetics from the year 2013. DESIGN: Literature review. METHODS: A literature search was conducted on PubMed to identify articles pertaining to genetic influences on human eye diseases. This review focuses on manuscripts published in print or online in the English language between January 1, 2013 and December 31, 2013. A total of 120 papers from 2013 were included in this review. RESULTS: Significant progress has been made in our understanding of the genetic basis of a broad group of ocular disorders, including glaucoma, age-related macular degeneration, cataract, diabetic retinopathy, keratoconus, Fuchs' endothelial dystrophy, and refractive error. CONCLUSIONS: The latest next-generation sequencing technologies have become extremely effective tools for identifying gene mutations associated with ocular disease. These technological advancements have also paved the way for utilization of genetic information in clinical practice, including disease diagnosis, prediction of treatment response and molecular interventions guided by gene-based knowledge.
PURPOSE: To highlight major advancements in ocular genetics from the year 2013. DESIGN: Literature review. METHODS: A literature search was conducted on PubMed to identify articles pertaining to genetic influences on humaneye diseases. This review focuses on manuscripts published in print or online in the English language between January 1, 2013 and December 31, 2013. A total of 120 papers from 2013 were included in this review. RESULTS: Significant progress has been made in our understanding of the genetic basis of a broad group of ocular disorders, including glaucoma, age-related macular degeneration, cataract, diabetic retinopathy, keratoconus, Fuchs' endothelial dystrophy, and refractive error. CONCLUSIONS: The latest next-generation sequencing technologies have become extremely effective tools for identifying gene mutations associated with ocular disease. These technological advancements have also paved the way for utilization of genetic information in clinical practice, including disease diagnosis, prediction of treatment response and molecular interventions guided by gene-based knowledge.
Authors: Cheryl Y Gregory-Evans; Xia Wang; Kishor M Wasan; Jinying Zhao; Andrew L Metcalfe; Kevin Gregory-Evans Journal: J Clin Invest Date: 2013-12-20 Impact factor: 14.808
Authors: Mohammed A Aldahmesh; Arif O Khan; Hisham Alkuraya; Nouran Adly; Shamsa Anazi; Ahmed A Al-Saleh; Jawahir Y Mohamed; Hadia Hijazi; Sarita Prabakaran; Marlene Tacke; Abdullah Al-Khrashi; Mais Hashem; Thomas Reinheckel; Abdullah Assiri; Fowzan S Alkuraya Journal: Am J Hum Genet Date: 2013-07-03 Impact factor: 11.025
Authors: Marcel Martin; Lars Maßhöfer; Petra Temming; Sven Rahmann; Claudia Metz; Norbert Bornfeld; Johannes van de Nes; Ludger Klein-Hitpass; Alan G Hinnebusch; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk Journal: Nat Genet Date: 2013-06-23 Impact factor: 38.330
Authors: Lai Wei; Baoying Liu; Jingsheng Tuo; Defen Shen; Ping Chen; Zhiyu Li; Xunxian Liu; Jia Ni; Pradeep Dagur; H Nida Sen; Shayma Jawad; Diamond Ling; Stanley Park; Sagarika Chakrabarty; Catherine Meyerle; Elvira Agron; Frederick L Ferris; Emily Y Chew; J Philip McCoy; Emily Blum; Peter J Francis; Michael L Klein; Robyn H Guymer; Paul N Baird; Chi-Chao Chan; Robert B Nussenblatt Journal: Cell Rep Date: 2012-11-21 Impact factor: 9.423
Authors: Ching-Yu Cheng; Maria Schache; M Kamran Ikram; Terri L Young; Jeremy A Guggenheim; Veronique Vitart; Stuart MacGregor; Virginie J M Verhoeven; Veluchamy A Barathi; Jiemin Liao; Pirro G Hysi; Joan E Bailey-Wilson; Beate St Pourcain; John P Kemp; George McMahon; Nicholas J Timpson; David M Evans; Grant W Montgomery; Aniket Mishra; Ya Xing Wang; Jie Jin Wang; Elena Rochtchina; Ozren Polasek; Alan F Wright; Najaf Amin; Elisabeth M van Leeuwen; James F Wilson; Craig E Pennell; Cornelia M van Duijn; Paulus T V M de Jong; Johannes R Vingerling; Xin Zhou; Peng Chen; Ruoying Li; Wan-Ting Tay; Yingfeng Zheng; Merwyn Chew; Kathryn P Burdon; Jamie E Craig; Sudha K Iyengar; Robert P Igo; Jonathan H Lass; Emily Y Chew; Toomas Haller; Evelin Mihailov; Andres Metspalu; Juho Wedenoja; Claire L Simpson; Robert Wojciechowski; René Höhn; Alireza Mirshahi; Tanja Zeller; Norbert Pfeiffer; Karl J Lackner; Thomas Bettecken; Thomas Meitinger; Konrad Oexle; Mario Pirastu; Laura Portas; Abhishek Nag; Katie M Williams; Ekaterina Yonova-Doing; Ronald Klein; Barbara E Klein; S Mohsen Hosseini; Andrew D Paterson; Kari-Matti Makela; Terho Lehtimaki; Mika Kahonen; Olli Raitakari; Nagahisa Yoshimura; Fumihiko Matsuda; Li Jia Chen; Chi Pui Pang; Shea Ping Yip; Maurice K H Yap; Akira Meguro; Nobuhisa Mizuki; Hidetoshi Inoko; Paul J Foster; Jing Hua Zhao; Eranga Vithana; E-Shyong Tai; Qiao Fan; Liang Xu; Harry Campbell; Brian Fleck; Igor Rudan; Tin Aung; Albert Hofman; André G Uitterlinden; Goran Bencic; Chiea-Chuen Khor; Hannah Forward; Olavi Pärssinen; Paul Mitchell; Fernando Rivadeneira; Alex W Hewitt; Cathy Williams; Ben A Oostra; Yik-Ying Teo; Christopher J Hammond; Dwight Stambolian; David A Mackey; Caroline C W Klaver; Tien-Yin Wong; Seang-Mei Saw; Paul N Baird Journal: Am J Hum Genet Date: 2013-08-08 Impact factor: 11.025
Authors: Mollie A Minear; Yi-Ju Li; Jacqueline Rimmler; Elmer Balajonda; Shera Watson; R Rand Allingham; Michael A Hauser; Gordon K Klintworth; Natalie A Afshari; Simon G Gregory Journal: Mol Vis Date: 2013-12-12 Impact factor: 2.367