Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

doi:10.1016/j.ajo.2026.05.002

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Article

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

American journal of ophthalmology - 1 Aug 2026

Mizobuchi Kei, Inooka Taiga, Aoki Takuya, Anzai Hazuki, Torii Kaoruko, Hashimoto Kazuki, Suga Akiko, Ando Ryo, Hiraoka Miki, Kominami Taro, Sato Shigeru, Tsujikawa Motokazu, Nishida Kohji, Murakami Yusuke, Nakazawa Toru, Maeda Akiko, Kuniyoshi Kazuki, Ikeda Yasuhiro, Kondo Hiroyuki, Kondo Mineo, Nishiguchi Koji M, Murakami Akira, Fukami Maki, Nishina Sachiko, Iwata Takeshi, Saitsu Hirotomo, Tsunoda Kazushige, Ueno Shinji, Hotta Yoshihiro, Nakano Tadashi, Hayashi Takaaki

Abstract excerpt

PURPOSE: To investigate genotype-phenotype correlations in a nationwide Japanese cohort of patients with RPGRIP1-associated retinal dystrophy. DESIGN: Retrospective, multicenter cohort study. METHODS: Japanese patients with biallelic pathogenic RPGRIP1 variants diagnosed with Leber congenital amaurosis (LCA) or achromatopsia (ACHM) were recruited from university hospitals throughout Japan. Genetic analyses...

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PMID: 42102949
DOI: 10.1016/j.ajo.2026.05.002

Genes

RPGRIP1

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