Article
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.
JAMA - 23 Feb 2021
Li Zheng, Wang Zhenxun, Lee Mei Chin, Zenkel Matthias, Peh Esther, Ozaki Mineo, Topouzis Fotis, Nakano Satoko, Chan Anita, Chen Shuwen, Williams Susan E I, 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 Seng, Meah Wee Yang, Soo Hui Meng, Chen Xiao Yin, Chatzikyriakidou Anthi, Keskini Christina, Pappas Theofanis, Anastasopoulos Eleftherios, Lambropoulos Alexandros, Panagiotou Evangelia S, Mikropoulos Dimitrios G, Kosior-Jarecka Ewa, Cheong Augustine, Li Yuanhan, Lukasik Urszula, Nongpiur Monisha E, Husain Rahat, Perera Shamira A, Álvarez Lydia, García Montserrat, González-Iglesias Héctor, Fernández-Vega Cueto Andrés, Fernández-Vega Cueto Luis, Martinón-Torres Federico, Salas Antonio, Oguz Çilingir, Tamcelik Nevbahar, Atalay Eray, Batu Bilge, Irkec Murat, Aktas Dilek, Kasim Burcu, Astakhov Yury S, Astakhov Sergei Y, Akopov Eugeny L, Giessl Andreas, Mardin Christian, Hellerbrand Claus, Cooke Bailey Jessica N, Igo Robert P, Haines Jonathan L, Edward Deepak P, Heegaard Steffen, Davila Sonia, Tan Patrick, Kang Jae H, Pasquale Louis R, Kruse Friedrich E, Reis André, Carmichael Trevor R, Hauser Michael, Ramsay Michele, Mossböck Georg, Yildirim Nilgun, Tashiro Kei, Konstas Anastasios G P, Coca-Prados Miguel, Foo Jia Nee, Kinoshita Shigeru, Sotozono Chie, Kubota Toshiaki, Dubina Michael, Ritch Robert, Wiggs Janey L, Pasutto Francesca, Schlötzer-Schrehardt Ursula, Ho Ying Swan, Aung Tin, Tam Wai Leong, Khor Chiea Chuen
Abstract excerpt
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. Objective: To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to...