Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye

Li, Zheng; Wang, Zhenxun; Lee, Mei; Zenkel, Matthias; Peh, Esther; Ozaki, Mineo; Topouzis, Fotis; Nakano, Satoko; Chan, Anita; Chen, Shuwen; Williams, Susan; Orr, Andrew; Nakano, Masakazu; Kobakhidze, Nino; Zarnowski, Tomasz; Popa-Cherecheanu, Alina; Mizoguchi, Takanori; Manabe, Shin-ichi; Hayashi, Ken; Kazama, Shigeyasu; Inoue, Kenji; Mori, Yosai; Miyata, Kazunori; Sugiyama, Kazuhisa; Higashide, Tomomi; Chihara, Etsuo; Ideta, Ryuichi; Ishiko, Satoshi; Yoshida, Akitoshi; Tokumo, Kana; Kiuchi, Yoshiaki; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Aihara, Makoto; Inatani, Masaru; Mori, Kazuhiko; Ikeda, Yoko; Ueno, Morio; Gaston, Daniel; Rafuse, Paul; Shuba, Lesya; Saunders, Joseph; Nicolela, Marcelo; Chichua, George; Tabagari, Sergo; Founti, Panayiota; Sim, Kar; Meah, Wee; Soo, Hui; Chen, Xiao; Chatzikyriakidou, Anthi; Keskini, Christina; Pappas, Theofanis; Anastasopoulos, Eleftherios; Lambropoulos, Alexandros; Panagiotou, Evangelia; Mikropoulos, Dimitrios; Kosior-Jarecka, Ewa; Cheong, Augustine; Li, Yuanhan; Lukasik, Urszula; Nongpiur, Monisha; Husain, Rahat; Perera, Shamira; Alvarez, Lydia; Garcia, Montserrat; Gonzalez-Iglesias, Hector; Cueto, Andres; Cueto, Luis; Martinon-Torres, Federico; Salas, Antonio; Oguz, Cilingir; Tamcelik, Nevbahar; ATALAY, ERAY; Batu, Bilge; Irkec, Murat; Aktas, Dilek; Kasim, Burcu; Astakhov, Yury; Astakhov, Sergei; Akopov, Eugeny; Giessl, Andreas; Mardin, Christian; Hellerbrand, Claus; Bailey, Jessica; Igo, Robert; Haines, Jonathan; Edward, Deepak; Heegaard, Steffen; Davila, Sonia; Tan, Patrick; Kang, Jae; Pasquale, Louis; Kruse, Friedrich; Reis, Andre; Carmichael, Trevor; Hauser, Michael; Ramsay, Michele; Mossbock, Georg; YILDIRIM, NİLGÜN; Tashiro, Kei; Konstas, Anastasios; Coca-Prados, Miguel; Foo, Jia; Kinoshita, Shigeru; Sotozono, Chie; Kubota, Toshiaki; Dubina, Michael; Ritch, Robert; Wiggs, Janey; Pasutto, Francesca; Schloetzer-Schrehardt, Ursula; Ho, Ying; Aung, Tin; Tam, Wai; Khor, Chiea

doi:10.1001/jama.2021.0507

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye

Li Z., Wang Z., Lee M. C., Zenkel M., Peh E., Ozaki M., ...More

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, vol.325, no.8, pp.753-764, 2021 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 325 Issue: 8
Publication Date: 2021
Doi Number: 10.1001/jama.2021.0507
Journal Name: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Abstracts in Social Gerontology, AgeLine, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, EMBASE, Food Science & Technology Abstracts, Gender Studies Database, Index Islamicus, International Pharmaceutical Abstracts, MEDLINE, MLA - Modern Language Association Database, Psycinfo, Public Affairs Index, Veterinary Science Database, DIALNET
Page Numbers: pp.753-764
Open Archive Collection: AVESIS Open Access Collection
Hacettepe University Affiliated: Yes

Abstract

IMPORTANCE Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness.