Deletion involving exon 18 of RPGRIP1 is a major cause of achromatopsia

Variants in RPGRIP1 -ex18-DEL are unique hotspots with a high prevalence among Japanese patients with ACHM. Clinical findings in these patients are consistent with those in patients with ACHM from other causative genes.

Authors

Shinji Ueno (ORCID: https://orcid.org/0000-0001-5716-3626)
Akiko Suga
Junya Ota (ORCID: https://orcid.org/0009-0007-7124-7595)
Kazuki Kuniyoshi
Naoko Minematsu
Takaaki Hayashi
Kazutoshi Yoshitake
Taiga Inooka
Kazushige Tsunoda
Kei Mizobuchi
Taro Kominami
Hiroyuki Kondo
Koji M. Nishiguchi
Takeshi Iwata

Institutions

Jikei University School of Medicine (JP)
Tokyo University of Agriculture (JP)
Hirosaki University (JP)
Mie University (JP)
University of Occupational and Environmental Health Japan (JP)
Tokyo Medical Center (JP)
Nagoya University (JP)
Kindai University (JP)

Publication Details

Journal: Retina
Published: 2026-02-10
DOI: https://doi.org/10.1097/iae.0000000000004778
Primary Topic: Platelet Disorders and Treatments
Type: article
Field-Weighted Citation Impact: 0.00

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article

Deletion involving exon 18 of RPGRIP1 is a major cause of achromatopsia

Shinji Ueno, Akiko Suga, Junya Ota, Kazuki Kuniyoshi et al.

Feb 10, 2026

Retina

Platelet Disorders and Treatments

article

Deletion involving exon 18 of RPGRIP1 is a major cause of achromatopsia

Shinji Ueno, Akiko Suga, Junya Ota, Kazuki Kuniyoshi, Naoko Minematsu, Takaaki Hayashi, Kazutoshi Yoshitake, Taiga Inooka, Kazushige Tsunoda, Kei Mizobuchi, Taro Kominami, Hiroyuki Kondo, Koji M. Nishiguchi, Takeshi Iwata

February 10, 2026article en

Abstract

Variants in RPGRIP1 -ex18-DEL are unique hotspots with a high prevalence among Japanese patients with ACHM. Clinical findings in these patients are consistent with those in patients with ACHM from other causative genes.

Retina

Jikei University School of Medicine (JP), Tokyo University of Agriculture (JP), Hirosaki University (JP), Mie University (JP), University of Occupational and Environmental Health Japan (JP), Tokyo Medical Center (JP), Nagoya University (JP), Kindai University (JP)

Openalex Percentile: Top 60%

Platelet Disorders and Treatments

DOI Source OpenAlex

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Deletion involving exon 18 of RPGRIP1 is a major cause of achromatopsia — Shinji Ueno, Akiko Suga, et al. · Retina (2026) | TGRS Research Map | TGRS