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Article

Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort.

American journal of ophthalmology - 1 Aug 2024

Mizobuchi Kei, Hayashi Takaaki, Tanaka Koji, Kuniyoshi Kazuki, Murakami Yusuke, Nakamura Natsuko, Torii Kaoruko, Mizota Atsushi, Sakai Daiki, Maeda Akiko, Kominami Taro, Ueno Shinji, Kusaka Shunji, Nishiguchi Koji M, Ikeda Yasuhiro, Kondo Mineo, Tsunoda Kazushige, Hotta Yoshihiro, Nakano Tadashi

Abstract excerpt

PURPOSE: To clarify the genetic and clinical features of Japanese patients with ABCA4-associated retinopathy. DESIGN: Retrospective, multicenter cohort study. METHODS: Patients with retinal degeneration and biallelic ABCA4 variants were recruited from 13 different hospitals. Whole exome sequencing analysis was used for genetic testing. Comprehensive ophthalmic examinations were performed on matched patients. The...

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PMID: 38499139
DOI: 10.1016/j.ajo.2024.03.007

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