Kei Mizobuchi, Taiga Inooka, Takuya Aoki, Hazuki Anzai, Kaoruko Torii, Kazuki Hashimoto, Akiko Suga, Ryo Ando, Miki Hiraoka, Taro Kominami, Shigeru Sato, Motokazu Tsujikawa, Kohji Nishida, Yusuke Murakami, Toru Nakazawa, Akiko Maeda, Kazuki Kuniyoshi, Yasuhiro Ikeda, Hiroyuki Kondo, Mineo Kondo, Koji M Nishiguchi, Akira Murakami, Maki Fukami, Sachiko Nishina, Takeshi Iwata, Hirotomo Saitsu, Kazushige Tsunoda, Shinji Ueno, Yoshihiro Hotta, Tadashi Nakano, Takaaki Hayashi
چکیده
To investigate genotype-phenotype correlations in a nationwide Japanese cohort of patients with RPGRIP1-associated retinal dystrophy. Retrospective, multicenter cohort study. Japanese patients with biallelic pathogenic RPGRIP1 variants diagnosed with Leber congenital amaurosis (LCA) or…
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DOI: 10.1016/j.ajo.2026.05.002