Article
DELETION INVOLVING EXON 18 OF RPGRIP1 IS a MAJOR CAUSE OF ACHROMATOPSIA.
Retina (Philadelphia, Pa.) - 1 Jun 2026
Inooka Taiga, Mizobuchi Kei, Hayashi Takaaki, Suga Akiko, Tsunoda Kazushige, Kuniyoshi Kazuki, Kondo Hiroyuki, Ota Junya, Kominami Taro, Yoshitake Kazutoshi, Minematsu Naoko, Iwata Takeshi, Kondo Mineo, Nishiguchi Koji M, Ueno Shinji
Abstract excerpt
PURPOSE: To evaluate the prevalence of achromatopsia (ACHM) associated with variants of RPGRIP1 , especially c.2710+374_2895+78del ( RPGRIP1 -ex18-DEL), and to confirm that these phenotypes were consistent with ACHM in Japanese patients. METHODS: This retrospective observational study involved a review of medical records from 52 patients across 47 Japanese families; all clinically diagnosed with ACHM. RESULTS:...
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