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7. Reply

Author

Low, Sancy, primary, Van Lancker, Lauren, additional, Barwood, Caroline, additional, Combe, Emily, additional, Sanhueza, Enrique, additional, and Lim, Kin Sheng, additional

Published
2023
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10. Clinical Outcomes and Cost Analysis of PreserFlo versus Trabeculectomy for Glaucoma Management in the United Kingdom

Author

Van Lancker, Lauren, primary, Saravanan, Amrita, additional, Abu-Bakra, Mohammed, additional, Reid, Kyle, additional, Quijano, Claudia, additional, Goyal, Saurabh, additional, Rodrigues, Ian, additional, Lascaratos, Gerassimos, additional, Trikha, Sameer, additional, Barwood, Caroline, additional, Combe, Emily, additional, Kulkarni, Avinash, additional, Lim, Kin Sheng, additional, and Low, Sancy, additional

Published
2022
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12. Impact of cessation of regular cataract surgery during the COVID pandemic on the rates of posterior capsular rupture and post-operative cystoid macular oedema

Author

Theodoraki, Korina, primary, Naderi, Khayam, additional, Lam, Chun Fung Jeffrey, additional, Tan, Jit Kai, additional, Jameel, Ashmal, additional, Lai, Lily, additional, Garcia, Luis Onrubia, additional, Low, Sancy, additional, Bhogal, Mani, additional, Robbie, Scott, additional, and O’Brart, David, additional

Published
2022
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13. List of Contributors

Author

Abrams-Tobe, Leslie, primary, Abuswider, Samer A, additional, Acosta, Jorge, additional, Agrawal, Pavi, additional, Albis-Donado, Oscar, additional, Alencar, Luciana M, additional, Allingham, R Rand, additional, Amireskandari, Annahita, additional, Anand, Nitin, additional, Aptel, Florent, additional, Araie, Makoto, additional, Arcieri, Enyr S, additional, Assia, Ehud I, additional, Aung, Tin, additional, Baerveldt, George, additional, Baig, Nafees, additional, Baik, Annie K, additional, Bansal, Rajendra K, additional, Babic, Mirko, additional, Barikian, Anita, additional, Barnebey, Howard, additional, Barton, Keith, additional, Baudouin, Christophe, additional, Beck, Allen, additional, Bennett, Sonya L, additional, Berke, Stanley J, additional, Bevin, Tui H, additional, Bhartiya, Shibal, additional, Bloom, Philip A, additional, Blumberg, Dana M, additional, Bollinger, Kathryn, additional, Bowd, Christopher, additional, Boyle, John W, additional, Brandt, James D, additional, Broadway, David C, additional, Brocchini, Stephen, additional, Bron, Alain M, additional, Budenz, Donald L, additional, Bunce, Catey, additional, Burgoyne, Claude F, additional, Burr, Jennifer, additional, Buys, Yvonne M, additional, Cantor, Louis B, additional, Caprioli, Joseph, additional, Carassa, Roberto G, additional, Casper, Daniel S, additional, Catoira-Boyle, Yara Paula, additional, Ceruti, Piero, additional, Chakrabarti, Debasis, additional, Chakrabarti, Raka, additional, Challa, Pratap, additional, Chan, Errol, additional, Chang, Peter T, additional, Chang, Robert T, additional, Chauhan, Balwantray C, additional, Chen, Aiyin, additional, Cheng, Jason, additional, Chew, Paul TK, additional, Chiang, Mark, additional, Chihara, Etsuo, additional, Choplin, Neil T, additional, Cioffi, George A, additional, Clement, Colin I, additional, Coleman, Anne L, additional, Congdon, Nathan G, additional, Coote, Michael A, additional, Costa, Vital P, additional, Crabb, David P, additional, Crandall, Alan S, additional, Craven, E Randy, additional, Crawley, Laura, additional, Crowston, Jonathan G, additional, Cunningham, Emmett T, additional, Dahan, Elie, additional, Dahlmann-Noor, Annegret H, additional, Damji, Karim F, additional, Day, Alexander, additional, Day, Me'Ja, additional, Denis, Philippe, additional, Dorairaj, Syril, additional, Downs, J Crawford, additional, Dutton, Gordon N, additional, Eldaly, Hassan, additional, El Sayyad, Fathi F, additional, Falsini, Benedetto, additional, Fantes, Francisco, additional, Fechter, Herbert P, additional, Fechtner, Robert D, additional, Fellman, Ronald L, additional, Fenwick, Eva, additional, Fernando, Arosha, additional, Fisher, Ann Caroline, additional, Fitzke, Frederick W, additional, Fortune, Brad, additional, Foster, Paul, additional, Founti, Panayiota, additional, Freedman, Jeffrey, additional, Gandolfi, Stefano A, additional, García-Feijoó, Julián, additional, Garway-Heath, David, additional, Gazzard, Gus, additional, Gedde, Steven J, additional, Geffen, Noa, additional, Georgoulas, Stelios, additional, Giangiacomo, Annette, additional, Gill, Katie, additional, Gkatzioufas, Zisis, additional, Goldberg, Ivan, additional, Gouws, Pieter, additional, Graham, Stuart L, additional, Grajewski, Alana L, additional, Greenfield, David S, additional, Grehn, Franz, additional, Grigera, Daniel E, additional, Gross, Ronald L, additional, Grover, Davinder S, additional, Grytz, Rafael, additional, Gupta, Meenakashi, additional, Gupta, Neeru, additional, de Moraes, Carlos Gustavo, additional, Hafez, Ali S, additional, Hafezi, Farhad, additional, Hamanaka, Teruhiko, additional, Harris, Alon, additional, Hatanaka, Marcelo, additional, Hawker, Matthew J, additional, Healey, Paul R, additional, Heatley, The late Catherine J, additional, Heuer, Dale K, additional, Higginbotham, Eve J, additional, Hirn, Cornelia, additional, Hitchings, Roger A, additional, Holló, Gábor, additional, Hoste, Ann M, additional, Huck, Andrew, additional, Hutnik, Cindy ML, additional, Hylton, Camille, additional, Ittoop, Sabita M, additional, Ja'afar, Farrah, additional, Jampel, Henry, additional, Johnson, Thomas V, additional, Jonas, Jost B, additional, Kahook, Malik Y, additional, Kass, Michael A, additional, Katsanos, Andreas, additional, Katz, L Jay, additional, Keeffe, Jill E, additional, Kersey, Thomas, additional, Khachatryan, Naira, additional, Khaw, Sir Peng Tee, additional, Khouri, Albert S, additional, Kiage, Dan, additional, Kiang, Lee, additional, Kim, Danny, additional, Kiuchi, Yoshiaki, additional, Klink, Thomas, additional, Koenigsman, Helen, additional, Konstas, Anastasios GP, additional, Kotecha, Aachal, additional, Kulkarni, Avinash, additional, Kuroyedov, Alexander V, additional, Labbé, Antoine, additional, Lacey, Alan, additional, Lam, Dennis SC, additional, Lamourex, Ecosse L, additional, Lee, Graham, additional, Lee, Paul, additional, Lemij, Hans G, additional, Leoncavallo, Anthony, additional, Lesk, Mark R, additional, Leung, Christopher KS, additional, Leung, Dexter YL, additional, Levin, Leonard A, additional, Lewis, Richard A, additional, Lim, K Sheng, additional, Lim, Ridia, additional, Lima, Ricardo de, additional, Liu, Yutao, additional, Lockwood, Alastair, additional, Low, Sancy, additional, Mabuchi, Fumihiko, additional, Mackey, David A, additional, Malik, Rizwan, additional, Mandal, Anil K, additional, Mansberger, Steven L, additional, Mansouri, Kaweh, additional, Marchini, Giorgio, additional, Marella, Manjula, additional, Martin, Keith R, additional, McGlynn, Robert H, additional, McKinley, Steven H, additional, McKinnon, Stuart J, additional, McManus, J Ryan, additional, Medeiros, Felipe A, additional, Mermoud, André, additional, Migdal, Clive S, additional, Minckler, Don, additional, Molteno, Anthony CB, additional, Mora, Paolo, additional, Moreno-Montañés, Javier, additional, Morgan, James E, additional, Mosaed, Sameh, additional, Moschos, Marilita M, additional, Muir, Kelly W, additional, Muñoz, Gonzalo, additional, Muñoz-Negrete, Francisco J, additional, Neelakantan, Arvind, additional, Negi, Anil K, additional, Netland, Peter A, additional, Newman-Casey, Paula Anne, additional, Nicolela, Marcelo T, additional, Niyadurupola, Nuwan, additional, Nofal, Magdy A, additional, Nolan, Winnie, additional, Nongpiur, Monisha E, additional, Noureddin, Baha'a N, additional, Novack, Gary D, additional, Nuyen, Brenda, additional, Palaniswamy, Krishnamurthy, additional, Palma, Camille, additional, Park, Ki Ho, additional, Parrish, Richard K, additional, Papadopoulos, Maria, additional, Parikh, Rajul S, additional, Pasquale, Louis R, additional, Pébay, Alice, additional, Petrov, Sergey, additional, Piltz-Seymour, Jody, additional, Pinto, Luís Abegão, additional, Pitha, Ian F, additional, Pfeiffer, Norbert, additional, Quaranta, Luciano, additional, Ramulu, Pradeep Y, additional, Ravinet, Emilie, additional, Realini, Tony, additional, Rebolleda, Gema, additional, Reus, Nic J, additional, Reynolds, Adam C, additional, Rhee, Douglas J, additional, Riss, Isabelle, additional, Ritch, Robert, additional, Riva, Charles E, additional, Roberti, Gloria, additional, Roberts, Cynthia J, additional, Robin, Alan L, additional, Rojanapongpun, Prin, additional, Roy, Sylvain, additional, Salmon, John F, additional, Sampaolesi, Juan Roberto, additional, Sangermani, Chiara, additional, Sarodia, Usman A, additional, Schaefer, Jamie Lea, additional, Schloetzer-Schrehardt, Ursula, additional, Schultz, Gregory S, additional, Schuman, Joel S, additional, Seibold, Leonard K, additional, Shaarawy, Tarek M, additional, Shah, Peter, additional, Sherwood, Mark B, additional, Shiroma, Lineu Oto, additional, Siesky, Brent, additional, Silva, Sergio Estrela, additional, Singh, Annapurna, additional, Singh, Arun D, additional, Singh, Kuldev, additional, Sng, Chelvin CA, additional, Song, Brian J, additional, Spaeth, George L, additional, Spratt, Alexander, additional, Stalmans, Ingeborg, additional, Stamper, Robert L, additional, Sugiyama, Kazuhisa, additional, Susanna, Remo, additional, Suwanpimolkul, Orathai, additional, Swanson, William H, additional, Tamm, Ernst R, additional, Tania Tai, Tak Yee, additional, Tanna, Angelo P, additional, Teekhasaenee, Chaiwat, additional, Tham, Clement CY, additional, Thieme, Hagen, additional, Thomas, Ravi, additional, Thompson, Andrew M, additional, Thulasiraj, Ravilla D, additional, Thygesen, John, additional, Tomey, Karim, additional, Ton, Yokrat, additional, Topouzis, Fotis, additional, Toris, Carol B, additional, Tosi, Roberto, additional, Tsai, James C, additional, Tuli, Sonal S, additional, Tuulonen, Anja, additional, Ungaro, Nicola, additional, Vale, Luke, additional, van Koolwijk, Leonieke ME, additional, Vaswani, Reena S, additional, Venkatesh, Rengaraj, additional, Venturini, Cristina, additional, Vernon, Stephen A, additional, Vithana, Eranga N, additional, Vijaya, Lingam, additional, Viswanathan, Ananth C, additional, Vizzari, Gabriele, additional, Voudouragkaki, Irini C, additional, Waisbourd, Michael, additional, Walland, Mark J, additional, Weinreb, Robert N, additional, Werner, Mark, additional, Wells, Anthony, additional, Wiafe, Boateng, additional, Wilensky, Jacob, additional, Wong, Tina T, additional, WuDunn, Darrell, additional, Yip, Jennifer LY, additional, Yucel, Yeni, additional, Zangwill, Linda M, additional, Zanutigh, Virginia E, additional, Zelefsky, Joseph R, additional, and Zeyen, Thierry, additional

Published
2015
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20. Acceptability of immediate sequential bilateral cataract surgery (ISBCS) in a public health care setting before and after COVID-19: a prospective patient questionnaire survey

Author

Shah, Vishal, primary, Naderi, Khayam, additional, Maubon, Laura, additional, Jameel, Ashmal, additional, Patel, Darshak S, additional, Gormley, Jack, additional, Heemraz, Sanjeev, additional, Azan, Elodie, additional, Verma, Seema, additional, Low, Sancy, additional, and O'Brart, David, additional

Published
2020
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21. Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Author

Waseem, Naushin H., primary, Low, Sancy, additional, Shah, Amna Z., additional, Avisetti, Deepa, additional, Ostergaard, Pia, additional, Simpson, Michael, additional, Niemiec, Katarzyna A., additional, Martin-Martin, Belen, additional, Aldehlawi, Hebah, additional, Usman, Saima, additional, Lee, Pak Sang, additional, Khawaja, Anthony P., additional, Ruddle, Jonathan B., additional, Shah, Ameet, additional, Sackey, Ege, additional, Day, Alexander, additional, Jiang, Yuzhen, additional, Swinfield, Geoff, additional, Viswanathan, Ananth, additional, Alfano, Giovanna, additional, Chakarova, Christina, additional, Cordell, Heather J., additional, Garway-Heath, David F., additional, Khaw, Peng T., additional, Bhattacharya, Shomi S., additional, Waseem, Ahmad, additional, and Foster, Paul J., additional

Published
2020
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26. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study

Author

Low, Sancy, Davidson, Alice E., Holder, Graham E., Hogg, Chris R., Bhattacharya, Shomi S., Black, Graeme C., Foster, Paul J., and Webster, Andrew R.

Subjects
Adult, Male, Heterozygote, genetic structures, DNA Mutational Analysis, Mutation, Missense, Retinal Pigment Epithelium, Retina, Chloride Channels, Electroretinography, Humans, Bestrophins, Eye Proteins, Alleles, Genes, Dominant, Siblings, Middle Aged, eye diseases, Pedigree, Vitelliform Macular Dystrophy, Electrooculography, Female, sense organs, Glaucoma, Angle-Closure, Research Article, Microsatellite Repeats
Abstract

Purpose To describe the clinical and molecular characteristics of two families with autosomal dominant Best disease and atypical electrooculography (EOG). Methods Four affected individuals from two families were ascertained. Detailed ophthalmic examinations, refraction, and biometry (anterior chamber depth [ACD] and axial length [AL]), gonioscopy, optical coherence tomography of the anterior segment and retina, retinal imaging, and electrophysiological assessment were performed. Arden ratios from EOG testing were calculated by direct measurement of the light peak to dark trough amplitudes. Mutations in bestrophin 1 (BEST1) were identified by bidirectional Sanger sequencing. In family 1, segregation of BEST1 alleles was performed by assaying four microsatellite markers (D11S935, D11S4102, D11S987, and D11S4162) that flank BEST1. Results The proband from family 1 (three of four siblings affected with Best disease) was 42 years old with bilateral macular vitelliform lesions, advanced angle closure glaucoma (ACG), a normal electroretinogram, and no EOG light rise. Her 44-year-old brother had similar fundus appearances and an EOG light rise of 170%. Their 48-year-old sister had a normal left fundus, whereas the right fundus showed a vitelliform lesion and subretinal thickening. There was no EOG light rise detectable from either eye. Mutation analysis of BEST1 showed all affected siblings to be heterozygous for a missense mutation, c.914T>C, p.Phe305Ser. Their unaffected sister had an EOG light rise of 200%, a normal fundus appearance, and did not harbor the BEST1 mutation. Haplotype analysis of family 1 showed that the affected brother with the 170% EOG light rise had inherited the same nondiseased parental BEST1 allele as his unaffected sister. The other two affected sisters with undetectable EOG light rises shared a different nondiseased parental BEST1 allele. An unrelated 53-year-old female carrying the same c.914T>C, p.Phe305Ser mutation showed typical features of Best disease and an EOG light rise of 180%. All four siblings from family 1 had shorter axial biometry (ACD range 2.06–2.74 mm; AL range 20.46–22.60 mm) than the normal population, contributing to their risk of ACG development. Proband 2 had deeper ACDs (2.83 mm OD and 2.85 mm OS), but similar ALs (21.52 mm OD and 21.42 mm OS) compared to family 1. She had no gonioscopic evidence of angle closure. Conclusions A near normal EOG light rise is uncommon in molecularly confirmed Best disease, and in the present report is associated with the same mutation in two families, suggesting a specific role for this amino acid in the retinal pigment epithelium dysfunction associated with this disorder. Haplotype analysis in family 1 was consistent with an effect of the nondisease allele in mediating the presence of an EOG light rise. Clinical assessment of ACG risk is recommended for BEST1 mutation carriers and their first degree relatives.

Published
2011

27. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Author

Khor, Chiea Chuen, primary, Do, Tan, additional, Jia, Hongyan, additional, Nakano, Masakazu, additional, George, Ronnie, additional, Abu-Amero, Khaled, additional, Duvesh, Roopam, additional, Chen, Li Jia, additional, Li, Zheng, additional, Nongpiur, Monisha E, additional, Perera, Shamira A, additional, Qiao, Chunyan, additional, Wong, Hon-Tym, additional, Sakai, Hiroshi, additional, Barbosa de Melo, Mônica, additional, Lee, Mei-Chin, additional, Chan, Anita S, additional, Azhany, Yaakub, additional, Dao, Thi Lam Huong, additional, Ikeda, Yoko, additional, Perez-Grossmann, Rodolfo A, additional, Zarnowski, Tomasz, additional, Day, Alexander C, additional, Jonas, Jost B, additional, Tam, Pancy O S, additional, Tran, Tuan Anh, additional, Ayub, Humaira, additional, Akhtar, Farah, additional, Micheal, Shazia, additional, Chew, Paul T K, additional, Aljasim, Leyla A, additional, Dada, Tanuj, additional, Luu, Tam Thi, additional, Awadalla, Mona S, additional, Kitnarong, Naris, additional, Wanichwecharungruang, Boonsong, additional, Aung, Yee Yee, additional, Mohamed-Noor, Jelinar, additional, Vijayan, Saravanan, additional, Sarangapani, Sripriya, additional, Husain, Rahat, additional, Jap, Aliza, additional, Baskaran, Mani, additional, Goh, David, additional, Su, Daniel H, additional, Wang, Huaizhou, additional, Yong, Vernon K, additional, Yip, Leonard W, additional, Trinh, Tuyet Bach, additional, Makornwattana, Manchima, additional, Nguyen, Thanh Thu, additional, Leuenberger, Edgar U, additional, Park, Ki-Ho, additional, Wiyogo, Widya Artini, additional, Kumar, Rajesh S, additional, Tello, Celso, additional, Kurimoto, Yasuo, additional, Thapa, Suman S, additional, Pathanapitoon, Kessara, additional, Salmon, John F, additional, Sohn, Yong Ho, additional, Fea, Antonio, additional, Ozaki, Mineo, additional, Lai, Jimmy S M, additional, Tantisevi, Visanee, additional, Khaing, Chaw Chaw, additional, Mizoguchi, Takanori, additional, Nakano, Satoko, additional, Kim, Chan-Yun, additional, Tang, Guangxian, additional, Fan, Sujie, additional, Wu, Renyi, additional, Meng, Hailin, additional, Nguyen, Thi Thuy Giang, additional, Tran, Tien Dat, additional, Ueno, Morio, additional, Martinez, Jose Maria, additional, Ramli, Norlina, additional, Aung, Yin Mon, additional, Reyes, Rigo Daniel, additional, Vernon, Stephen A, additional, Fang, Seng Kheong, additional, Xie, Zhicheng, additional, Chen, Xiao Yin, additional, Foo, Jia Nee, additional, Sim, Kar Seng, additional, Wong, Tina T, additional, Quek, Desmond T, additional, Venkatesh, Rengaraj, additional, Kavitha, Srinivasan, additional, Krishnadas, Subbiah R, additional, Soumittra, Nagaswamy, additional, Shantha, Balekudaru, additional, Lim, Boon-Ang, additional, Ogle, Jeanne, additional, de Vasconcellos, José P C, additional, Costa, Vital P, additional, Abe, Ricardo Y, additional, de Souza, Bruno B, additional, Sng, Chelvin C, additional, Aquino, Maria C, additional, Kosior-Jarecka, Ewa, additional, Fong, Guillermo Barreto, additional, Tamanaja, Vania Castro, additional, Fujita, Ricardo, additional, Jiang, Yuzhen, additional, Waseem, Naushin, additional, Low, Sancy, additional, Pham, Huan Nguyen, additional, Al-Shahwan, Sami, additional, Craven, E Randy, additional, Khan, Muhammad Imran, additional, Dada, Rrima, additional, Mohanty, Kuldeep, additional, Faiq, Muneeb A, additional, Hewitt, Alex W, additional, Burdon, Kathryn P, additional, Gan, Eng Hui, additional, Prutthipongsit, Anuwat, additional, Patthanathamrongkasem, Thipnapa, additional, Catacutan, Mary Ann T, additional, Felarca, Irene R, additional, Liao, Chona S, additional, Rusmayani, Emma, additional, Istiantoro, Vira Wardhana, additional, Consolandi, Giulia, additional, Pignata, Giulia, additional, Lavia, Carlo, additional, Rojanapongpun, Prin, additional, Mangkornkanokpong, Lerprat, additional, Chansangpetch, Sunee, additional, Chan, Jonathan C H, additional, Choy, Bonnie N K, additional, Shum, Jennifer W H, additional, Than, Hlaing May, additional, Oo, Khin Thida, additional, Han, Aye Thi, additional, Yong, Victor H, additional, Ng, Xiao-Yu, additional, Goh, Shuang Ru, additional, Chong, Yaan Fun, additional, Hibberd, Martin L, additional, Seielstad, Mark, additional, Png, Eileen, additional, Dunstan, Sarah J, additional, Chau, Nguyen Van Vinh, additional, Bei, Jinxin, additional, Zeng, Yi Xin, additional, Karkey, Abhilasha, additional, Basnyat, Buddha, additional, Pasutto, Francesca, additional, Paoli, Daniela, additional, Frezzotti, Paolo, additional, Wang, Jie Jin, additional, Mitchell, Paul, additional, Fingert, John H, additional, Allingham, R Rand, additional, Hauser, Michael A, additional, Lim, Soon Thye, additional, Chew, Soo Hong, additional, Ebstein, Richard P, additional, Sakuntabhai, Anavaj, additional, Park, Kyu Hyung, additional, Ahn, Jeeyun, additional, Boland, Greet, additional, Snippe, Harm, additional, Stead, Richard, additional, Quino, Raquel, additional, Zaw, Su Nyunt, additional, Lukasik, Urszula, additional, Shetty, Rohit, additional, Zahari, Mimiwati, additional, Bae, Hyoung Won, additional, Oo, Nay Lin, additional, Kubota, Toshiaki, additional, Manassakorn, Anita, additional, Ho, Wing Lau, additional, Dallorto, Laura, additional, Hwang, Young Hoon, additional, Kiire, Christine A, additional, Kuroda, Masako, additional, Djamal, Zeiras Eka, additional, Peregrino, Jovell Ian M, additional, Ghosh, Arkasubhra, additional, Jeoung, Jin Wook, additional, Hoan, Tung S, additional, Srisamran, Nuttamon, additional, Sandragasu, Thayanithi, additional, Set, Saw Htoo, additional, Doan, Vi Huyen, additional, Bhattacharya, Shomi S, additional, Ho, Ching-Lin, additional, Tan, Donald T, additional, Sihota, Ramanjit, additional, Loon, Seng-Chee, additional, Mori, Kazuhiko, additional, Kinoshita, Shigeru, additional, Hollander, Anneke I den, additional, Qamar, Raheel, additional, Wang, Ya-Xing, additional, Teo, Yik Y, additional, Tai, E-Shyong, additional, Hartleben-Matkin, Curt, additional, Lozano-Giral, David, additional, Saw, Seang Mei, additional, Cheng, Ching-Yu, additional, Zenteno, Juan C, additional, Pang, Chi Pui, additional, Bui, Huong T T, additional, Hee, Owen, additional, Craig, Jamie E, additional, Edward, Deepak P, additional, Yonahara, Michiko, additional, Neto, Jamil Miguel, additional, Guevara-Fujita, Maria L, additional, Xu, Liang, additional, Ritch, Robert, additional, Liza-Sharmini, Ahmad Tajudin, additional, Wong, Tien Y, additional, Al-Obeidan, Saleh, additional, Do, Nhu Hon, additional, Sundaresan, Periasamy, additional, Tham, Clement C, additional, Foster, Paul J, additional, Vijaya, Lingam, additional, Tashiro, Kei, additional, Vithana, Eranga N, additional, Wang, Ningli, additional, and Aung, Tin, additional

Published
2016
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31. ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

Author

Nongpiur, Monisha E., primary, Khor, Chiea Chuen, additional, Jia, Hongyan, additional, Cornes, Belinda K., additional, Chen, Li-Jia, additional, Qiao, Chunyan, additional, Nair, K. Saidas, additional, Cheng, Ching-Yu, additional, Xu, Liang, additional, George, Ronnie, additional, Tan, Do, additional, Abu-Amero, Khaled, additional, Perera, Shamira A., additional, Ozaki, Mineo, additional, Mizoguchi, Takanori, additional, Kurimoto, Yasuo, additional, Low, Sancy, additional, Tajudin, Liza-Sharmini A., additional, Ho, Ching-Lin, additional, Tham, Clement C. Y., additional, Soto, Ileana, additional, Chew, Paul T. K., additional, Wong, Hon-Tym, additional, Shantha, Balekudaru, additional, Kuroda, Masako, additional, Osman, Essam A., additional, Tang, Guangxian, additional, Fan, Sujie, additional, Meng, Hailin, additional, Wang, Hua, additional, Feng, Bo, additional, Yong, Victor H. K., additional, Ting, Serena M. L., additional, Li, Yang, additional, Wang, Ya-Xing, additional, Li, Zheng, additional, Lavanya, Raghavan, additional, Wu, Ren-Yi, additional, Zheng, Ying-Feng, additional, Su, Daniel H., additional, Loon, Seng-Chee, additional, Allingham, R. Rand, additional, Hauser, Michael A., additional, Soumittra, Nagaswamy, additional, Ramprasad, Vedam L., additional, Waseem, Naushin, additional, Yaakub, Azhany, additional, Chia, Kee-Seng, additional, Kumaramanickavel, Govindasamy, additional, Wong, Tina T., additional, How, Alicia C., additional, Chau, Tran Nguyen Bich, additional, Simmons, Cameron P., additional, Bei, Jin-Xin, additional, Zeng, Yi-Xin, additional, Bhattacharya, Shomi S., additional, Zhang, Mingzhi, additional, Tan, Donald T., additional, Teo, Yik-Ying, additional, Al-Obeidan, Saleh A., additional, Hon, Do Nhu, additional, Tai, E-Shyong, additional, Saw, Seang-Mei, additional, Foster, Paul J., additional, Vijaya, Lingam, additional, Jonas, Jost B., additional, Wong, Tien-Yin, additional, John, Simon W. M., additional, Pang, Chi-Pui, additional, Vithana, Eranga N., additional, Wang, Ningli, additional, and Aung, Tin, additional

Published
2014
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32. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Author

Vithana, Eranga N, primary, Khor, Chiea-Chuen, additional, Qiao, Chunyan, additional, Nongpiur, Monisha E, additional, George, Ronnie, additional, Chen, Li-Jia, additional, Do, Tan, additional, Abu-Amero, Khaled, additional, Huang, Chor Kai, additional, Low, Sancy, additional, Tajudin, Liza-Sharmini A, additional, Perera, Shamira A, additional, Cheng, Ching-Yu, additional, Xu, Liang, additional, Jia, Hongyan, additional, Ho, Ching-Lin, additional, Sim, Kar Seng, additional, Wu, Ren-Yi, additional, Tham, Clement C Y, additional, Chew, Paul T K, additional, Su, Daniel H, additional, Oen, Francis T, additional, Sarangapani, Sripriya, additional, Soumittra, Nagaswamy, additional, Osman, Essam A, additional, Wong, Hon-Tym, additional, Tang, Guangxian, additional, Fan, Sujie, additional, Meng, Hailin, additional, Huong, Dao T L, additional, Wang, Hua, additional, Feng, Bo, additional, Baskaran, Mani, additional, Shantha, Balekudaru, additional, Ramprasad, Vedam L, additional, Kumaramanickavel, Govindasamy, additional, Iyengar, Sudha K, additional, How, Alicia C, additional, Lee, Kelvin Y, additional, Sivakumaran, Theru A, additional, Yong, Victor H K, additional, Ting, Serena M L, additional, Li, Yang, additional, Wang, Ya-Xing, additional, Tay, Wan-Ting, additional, Sim, Xueling, additional, Lavanya, Raghavan, additional, Cornes, Belinda K, additional, Zheng, Ying-Feng, additional, Wong, Tina T, additional, Loon, Seng-Chee, additional, Yong, Vernon K Y, additional, Waseem, Naushin, additional, Yaakub, Azhany, additional, Chia, Kee-Seng, additional, Allingham, R Rand, additional, Hauser, Michael A, additional, Lam, Dennis S C, additional, Hibberd, Martin L, additional, Bhattacharya, Shomi S, additional, Zhang, Mingzhi, additional, Teo, Yik Ying, additional, Tan, Donald T, additional, Jonas, Jost B, additional, Tai, E-Shyong, additional, Saw, Seang-Mei, additional, Hon, Do Nhu, additional, Al-Obeidan, Saleh A, additional, Liu, Jianjun, additional, Chau, Tran Nguyen Bich, additional, Simmons, Cameron P, additional, Bei, Jin-Xin, additional, Zeng, Yi-Xin, additional, Foster, Paul J, additional, Vijaya, Lingam, additional, Wong, Tien-Yin, additional, Pang, Chi-Pui, additional, Wang, Ningli, additional, and Aung, Tin, additional

Published
2012
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34. Angle-Closure

Author

Low, Sancy, primary, Harsum, Steven, additional, Chang, Lydia, additional, Foster, Paul J., additional, and Khaw, Peng T., additional

Published
2008
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37. ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma.

Author

Nongpiur, Monisha E., Khor, Chiea Chuen, Jia, Hongyan, Cornes, Belinda K., Chen, Li-Jia, Qiao, Chunyan, Nair, K. Saidas, Cheng, Ching-Yu, Xu, Liang, George, Ronnie, Tan, Do, Abu-Amero, Khaled, Perera, Shamira A., Ozaki, Mineo, Mizoguchi, Takanori, Kurimoto, Yasuo, Low, Sancy, Tajudin, Liza-Sharmini A., Ho, Ching-Lin, and Tham, Clement C. Y.

Subjects
ANTERIOR chamber (Eye), ANGLE-closure glaucoma, GLAUCOMA, GENETICS of eye diseases, DISEASE risk factors
Abstract

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = −0.045 mm, P = 8.17×10−9). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06–1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45×10−9; 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions. [ABSTRACT FROM AUTHOR]

Published
2014
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38. Anterior Segment Optical Coherence Tomography and Ultrasound Biomicroscopy in Glaucoma.

Author

Low, Sancy and Siddiqi, Rizwana

Subjects
*ULTRASONIC imaging, *SLIT lamp microscopy, *TOMOGRAPHY, *GLAUCOMA diagnosis, *ANTERIOR eye segment
Abstract

The article provides information on applications of ultrasound biomicroscopy (UBM) and anterior segment optical coherence tomography (AS-OCT) in the diagnosis of glaucoma. UBM can be done real time and the relationships between various anterior segment structures are seen. AS-OCT is a non-contact means of imaging. It is less dependent on operator skill and useful for clinical research. Diagnosis of primary angle closure glaucoma and its three stages is the major use of anterior segment imaging.

Published
2011

40. LIST OF CONTRIBUTORS

Author

Acosta, Jorge, Albis-Donado, Oscar, Alencar, Luciana M, Rand Allingham, R, Anand, Nitin, Asota, Ijeoma M, Yu Astakhov, Sergey, Astakhov, Yury S, Babic, Mirko, Baerveldt, George, Bansal, Rajendra K, Barton, Keith, Baudouin, Christophe, Bazzaz, Sheila, Beck, Allen, Bennett, Sonya L, Berke, Stanley J, Berlin, Michael S, Bevin, Tui H, Bloom, Philip A, Bollinger, Kathryn E, Bowd, Christopher, Boyle, John W, IV, Brandt, James D, Broadway, David C, Brocchini, Stephen, Bron, Alain M, Budenz, Donald L, Bull, Natalie D, Bunce, Catey, Burgoyne, Claude F, Buys, Yvonne M, Cantor, Louis B, Caprioli, Joseph, Carassa, Roberto G, Casper, Daniel S, Catoira-Boyle, Yara PM, Ceruti, Piero, Chakrabarti, Debasis, Chakrabarti, Raka (Chatterjee), Challa, Pratap, Chang, Peter T, Chiang, Mark Y-M, Choplin, Neil T, Cioffi, George A, Coleman, Anne L, Congdon, Nathan G, Coote, Michael A, Costa, Vital P, Crabb, David P, Randy Craven, E, Crowston, Jonathan G, Dahan, Elie, Dahlmann-Noor, Annegret H, de Lima, Ricardo, Diamond, Jeremy P, Dorairaj, Syril K, Doshi, Amish, Crawford Downs, J, El Mallah, Mohammed K, ElSayyad, Fathi F, Esson, Douglas W, Fantes, Francisco, Fechter, Herbert P, III, Fechtner, Robert D, Fellman, Ronald L, Fernando, Arosha, Fisher, Ann Caroline, Fitzke, Frederick W, Flammer, Josef, Fortune, Brad, Foster, Paul J, Freedman, Jeffrey, Gandolfi, Stefano A, Garway-Heath, David (Ted), Gazzard, Gus, Gedde, Steven J, Georgoulas, Stelios, Goldberg, Ivan, Graham, Stuart L, Grajewski, Alana, Greenfield, David S, Grehn, Franz, Grigera, Daniel E, Gross, Ronald L, Gupta, Meenakashi, Haefliger, Ivan O, Hafez, Ali S, Hawker, Matthew J, Healey, Paul R, Heatley, Catherine J, Heuer, Dale K, Higginbotham, Eve J, Hitchings, Roger A, Holló, Gábor, Hoste, Ann M, Hylton, Camille, Johnson, Thomas V, Jonas, Jost B, Kahook, Malik Y, Kass, Michael A, Jay Katz, L, Keeffe, Jill E, Tee Khaw, Peng, Khouri, Albert S, Kim, Danny, Klink, Thomas, Konstas, Anastasios GP, Kotecha, Aachal, Krupin, Theodore, Kulkarni, Avinash, Labbé, Antoine, Labbe, Thad, Lacey, Alan, Lam, Dennis SC, Lee, Graham, Lee, Paul P, Lemij, Hans G, Fabian Lerner, S, Lesk, Mark R, Levin, Leonard A, Lewis, Richard A, Lichter, Paul R, Liebmann, Jeffrey M, Sheng Lim, K, Lim, Ridia, Low, Sancy, Mandal, Anil K, Marchini, Giorgio, Martin, Belen, Martin, Keith R, Matchar, David B, McKinley, Steven H, McKinnon, Stuart J, Medeiros, Felipe A, Mermoud, André, Mérula, Rafael V, Meyers, Toni T, Migdal, Clive S, Mikropoulos, Dimitrios G, Minckler, Don, Molteno, Anthony CB, Mora, Paolo, Moreno-Montañés, Javier, Morgan, James E, Muñoz-Negrete, Francisco J, Myers, Jonathan S, Neelakantan, Arvind, Negi, Anil K, Netland, Peter A, Nicolela, Marcelo T, Nofal, Magdy A, Nolan, Winifred, Noureddin, Baha' N, Papadopoulos, Maria, Parikh, Rajul S, Parrish, Richard K, II, Pfeiffer, Norbert, Piltz-Seymour, Jody, Quigley, Harry A, Quinn, Carolyn D, Ramulu, Pradeep Y, Realini, Anthony, Rebolleda, Gema, Reus, Nicolaas J, Reynolds, Adam C, Rhee, Douglas J, Ritch, Robert, Roberts, Cynthia J, Roberts, Michael D, Robin, Alan L, RojanaPongpun, Prin, Roy, Sylvain, Ru, Qian, Salmon, John F, Sampaolesi, Juan Roberto, Sangermani, Chiara, Sarodia, Usman A, Schlötzer-Schrehardt, Ursula, Schnyder, Corinne C, Schultz, Gregory S, Schuman, Joel S, Schwartz, Gail F, Shaarawy, Tarek M, Shah, Peter, Sheets, Clinton W, Sherwood, Mark B, Oto Shiroma, Lineu, Shuba, Lesya M, Singh, Annapurna, Singh, Arun D, Singh, Kuldev, Spaeth, George L, Spratt, Alexander, Stalmans, Ingeborg, Stamper, Robert L, Stewart, William C, Susanna, Remo, Jr, Tamm, Ernst R, Tanna, Angelo P, Teekhasaenee, Chaiwat, Tello, Celso, Tham, Clement CY, Thieme, Hagen, Thomas, Ravi, Thompson, Andrew M, Thulasiraj, Ravilla D, Thygesen, John, Tomey, Karim, Toris, Carol B, Tosi, Roberto, Tsai, James C, Tuli, Sonal S, Tuulonen, Anja, Uhler, Tara A, Ungaro, Nicola, Michael Van Buskirk, E, van Koolwijk, Leonieke ME, Vernon, Stephen A, Vessani, Roberto M, Viswanathan, Ananth C, Weinreb, Robert, Wells, Anthony, Werner, Mark, Wiafe, Boateng, Wilensky, Jacob T, Windisch, Bettina K, Wong, Tina, WuDunn, Darrell, Yip, Jennifer LY, Zangwill, Linda M, Zanutigh, Virginia E, Zeyen, Thierry, and Zimmerman, Thom J

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41. LIST OF CONTRIBUTORS

Author

Acosta, Jorge, Albis-Donado, Oscar, Alencar, Luciana M, Rand Allingham, R, Anand, Nitin, Asota, Ijeoma M, Yu Astakhov, Sergey, Astakhov, Yury S, Babic, Mirko, Baerveldt, George, Bansal, Rajendra K, Barton, Keith, Baudouin, Christophe, Bazzaz, Sheila, Beck, Allen, Bennett, Sonya L, Berke, Stanley J, Berlin, Michael S, Bevin, Tui H, Bloom, Philip A, Bollinger, Kathryn E, Bowd, Christopher, Boyle, John W, IV, Brandt, James D, Broadway, David C, Brocchini, Stephen, Bron, Alain M, Budenz, Donald L, Bull, Natalie D, Bunce, Catey, Burgoyne, Claude F, Buys, Yvonne M, Cantor, Louis B, Caprioli, Joseph, Carassa, Roberto G, Casper, Daniel S, Catoira-Boyle, Yara PM, Ceruti, Piero, Chakrabarti, Debasis, Chakrabarti, Raka (Chatterjee), Challa, Pratap, Chang, Peter T, Chiang, Mark Y-M, Choplin, Neil T, Cioffi, George A, Coleman, Anne L, Congdon, Nathan G, Coote, Michael A, Costa, Vital P, Crabb, David P, Randy Craven, E, Crowston, Jonathan G, Dahan, Elie, Dahlmann-Noor, Annegret H, de Lima, Ricardo, Diamond, Jeremy P, Dorairaj, Syril K, Doshi, Amish, Crawford Downs, J, El Mallah, Mohammed K, ElSayyad, Fathi F, Esson, Douglas W, Fantes, Francisco, Fechter, Herbert P, III, Fechtner, Robert D, Fellman, Ronald L, Fernando, Arosha, Fisher, Ann Caroline, Fitzke, Frederick W, Flammer, Josef, Fortune, Brad, Foster, Paul J, Freedman, Jeffrey, Gandolfi, Stefano A, Garway-Heath, David (Ted), Gazzard, Gus, Gedde, Steven J, Georgoulas, Stelios, Goldberg, Ivan, Graham, Stuart L, Grajewski, Alana, Greenfield, David S, Grehn, Franz, Grigera, Daniel E, Gross, Ronald L, Gupta, Meenakashi, Haefliger, Ivan O, Hafez, Ali S, Hawker, Matthew J, Healey, Paul R, Heatley, Catherine J, Heuer, Dale K, Higginbotham, Eve J, Hitchings, Roger A, Holló, Gábor, Hoste, Ann M, Hylton, Camille, Johnson, Thomas V, Jonas, Jost B, Kahook, Malik Y, Kass, Michael A, Jay Katz, L, Keeffe, Jill E, Tee Khaw, Peng, Khouri, Albert S, Kim, Danny, Klink, Thomas, Konstas, Anastasios GP, Kotecha, Aachal, Krupin, Theodore, Kulkarni, Avinash, Labbé, Antoine, Labbe, Thad, Lacey, Alan, Lam, Dennis SC, Lee, Graham, Lee, Paul P, Lemij, Hans G, Fabian Lerner, S, Lesk, Mark R, Levin, Leonard A, Lewis, Richard A, Lichter, Paul R, Liebmann, Jeffrey M, Sheng Lim, K, Lim, Ridia, Low, Sancy, Mandal, Anil K, Marchini, Giorgio, Martin, Belen, Martin, Keith R, Matchar, David B, McKinley, Steven H, McKinnon, Stuart J, Medeiros, Felipe A, Mermoud, André, Mérula, Rafael V, Meyers, Toni T, Migdal, Clive S, Mikropoulos, Dimitrios G, Minckler, Don, Molteno, Anthony CB, Mora, Paolo, Moreno-Montañés, Javier, Morgan, James E, Muñoz-Negrete, Francisco J, Myers, Jonathan S, Neelakantan, Arvind, Negi, Anil K, Netland, Peter A, Nicolela, Marcelo T, Nofal, Magdy A, Nolan, Winifred, Noureddin, Baha' N, Papadopoulos, Maria, Parikh, Rajul S, Parrish, Richard K, II, Pfeiffer, Norbert, Piltz-Seymour, Jody, Quigley, Harry A, Quinn, Carolyn D, Ramulu, Pradeep Y, Realini, Anthony, Rebolleda, Gema, Reus, Nicolaas J, Reynolds, Adam C, Rhee, Douglas J, Ritch, Robert, Roberts, Cynthia J, Roberts, Michael D, Robin, Alan L, RojanaPongpun, Prin, Roy, Sylvain, Ru, Qian, Salmon, John F, Sampaolesi, Juan Roberto, Sangermani, Chiara, Sarodia, Usman A, Schlötzer-Schrehardt, Ursula, Schnyder, Corinne C, Schultz, Gregory S, Schuman, Joel S, Schwartz, Gail F, Shaarawy, Tarek M, Shah, Peter, Sheets, Clinton W, Sherwood, Mark B, Oto Shiroma, Lineu, Shuba, Lesya M, Singh, Annapurna, Singh, Arun D, Singh, Kuldev, Spaeth, George L, Spratt, Alexander, Stalmans, Ingeborg, Stamper, Robert L, Stewart, William C, Susanna, Remo, Jr, Tamm, Ernst R, Tanna, Angelo P, Teekhasaenee, Chaiwat, Tello, Celso, Tham, Clement CY, Thieme, Hagen, Thomas, Ravi, Thompson, Andrew M, Thulasiraj, Ravilla D, Thygesen, John, Tomey, Karim, Toris, Carol B, Tosi, Roberto, Tsai, James C, Tuli, Sonal S, Tuulonen, Anja, Uhler, Tara A, Ungaro, Nicola, Michael Van Buskirk, E, van Koolwijk, Leonieke ME, Vernon, Stephen A, Vessani, Roberto M, Viswanathan, Ananth C, Weinreb, Robert, Wells, Anthony, Werner, Mark, Wiafe, Boateng, Wilensky, Jacob T, Windisch, Bettina K, Wong, Tina, WuDunn, Darrell, Yip, Jennifer LY, Zangwill, Linda M, Zanutigh, Virginia E, Zeyen, Thierry, and Zimmerman, Thom J

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42. Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.

Author

Maubaret C, Kosmaoglou M, Low S, Chakarova CF, Bidot S, Thauvin-Robinet C, Robson AG, Waseem N, Cheetham ME, and Bhattacharya SS

Subjects
Adolescent, Case-Control Studies, Cell Line, Exons, Female, France, Genes, Dominant, Genetic Linkage, Humans, Microsatellite Repeats, Middle Aged, Molecular Sequence Data, Pedigree, Plasmids, Sequence Analysis, DNA, Transformation, Genetic, Base Sequence, Proteostasis Deficiencies genetics, Retinitis Pigmentosa genetics, Rhodopsin genetics, Sequence Deletion genetics, White People genetics
Abstract

Purpose: To identify and functionally characterize the mutation responsible for autosomal dominant retinitis pigmentosa (adRP) in a large, six-generation French family., Methods: Twenty individuals from this family participated in the genetic investigation. Six affected and 14 unaffected individuals from three-generations were available for linkage analysis using microsatellite markers flanking the rhodopsin (RHO) gene. A two-point logarithm of odds (LOD) score calculation was undertaken using GENEMARKER and MLINK software. Sanger sequencing of RHO was performed. Cellular localization of the mutant protein was performed by transforming SK-N-SH cells with pEGFP-N1-Rho, pEGFP-N1-Rho(P23H), and pEGFP-N1-Rho(c.614-622del)., Results: The proband had nyctalopia, visual field constriction, peripheral bone spicule pigmentation of the fundus, central acuity (6/24 RE; 6/12 LE) at 55 years of age. Linkage analysis of this family suggested RHO as a possible candidate since the flanking marker D3S1292 yielded a LOD score of 2.43 at θ=0. Cloning of an exon 3 PCR product and direct sequencing of single clones identified a novel deletion in the third exon of RHO, c.614-622del (p.Y206-F208del). The deleted mutant protein localized to the endoplasmic reticulum and formed inclusion bodies., Conclusions: This novel deletion in exon 3 of the RHO gene, c.614-622del results in a classical form of adRP in a multi-generation French family. Protein expression analyses confirmed that the deletion led to protein misfolding and suggest this is a class II mutation, similar to P23H, the most common class II mutation seen in North America.

Published
2012

43. A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Author

Davidson AE, Sergouniotis PI, Burgess-Mullan R, Hart-Holden N, Low S, Foster PJ, Manson FD, Black GC, and Webster AR

Subjects
Adult, Bestrophins, Child, Computational Biology, Female, Fibronectins chemistry, Fibronectins genetics, Fluorescence, Fundus Oculi, HEK293 Cells, Humans, Male, Middle Aged, Protein Structure, Tertiary, Young Adult, alpha-Globins genetics, Chloride Channels genetics, Codon genetics, Eye Proteins genetics, Genes, Recessive genetics, Mutation genetics, RNA Splicing genetics, Retinal Dystrophies genetics
Abstract

Purpose: Autosomal recessive bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans. The aim was to determine whether a synonymous BEST1 variant, c.102C>T, identified in two unrelated ARB patients, alters pre-mRNA splicing of the gene. Additionally a detailed phenotypic characterization of this distinctive condition is presented for both patients., Methods: BEST1 was analyzed by direct sequencing. Patients underwent standard ophthalmic assessment. In silico and in vitro analysis using a minigene system was performed to assess whether a synonymous variant identified, c.102C>T p.Gly34Gly, alters pre-mRNA splicing of BEST1., Results: Both ARB patients harbored either proven (patient 1; c.102C>T p.Gly34Gly and c.572T>C p.Leu191Pro) or presumed (patient 2; c.102C>T p.Gly34Gly and c.1470_1471delCA, p.His490GlnfsX24) biallelic mutations in BEST1 and were found to have phenotypes consistent with ARB. In vitro analysis of the synonymous variant, c.102C>T p.Gly34Gly, demonstrated it to introduce a cryptic splice donor site 52 nucleotides upstream of the actual splice donor site., Conclusions: The novel BEST1 variant identified, c.102C>T p.Gly34Gly, alters pre-mRNA splicing in vitro and is potentially pathogenic. In vivo this splicing variant is predicted to lead to the production of an mRNA transcript with a premature termination codon (p.Glu35TrpfsX11) that is predicted to be degraded by NMD.

Published
2010

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