Evidence map›Paper›PMID 41666299›Full record

Observational studyRetina (Philadelphia, Pa.)2026

DELETION INVOLVING EXON 18 OF RPGRIP1 IS a MAJOR CAUSE OF ACHROMATOPSIA.

Taiga Inooka, Kei Mizobuchi, Takaaki Hayashi, Akiko Suga, Kazushige Tsunoda, Kazuki Kuniyoshi, Hiroyuki Kondo, Junya Ota, Taro Kominami, Kazutoshi Yoshitake and 5 more

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Retina (Philadelphia, Pa.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Taiga InookaDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID 0000-0003-1912-5316
Kei MizobuchiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Akiko SugaDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Kazushige TsunodaDivision of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Kazuki KuniyoshiDepartment of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan.
Hiroyuki KondoDepartment of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
Junya OtaDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Taro KominamiDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Kazutoshi YoshitakeDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Naoko MinematsuDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Mineo KondoDepartment of Ophthalmology, Mie University School of Medicine, Tsu, Japan; and.
Koji M NishiguchiDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Shinji UenoDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Funding

Japan Society for the Promotion of Science 21K09756Japan Society for the Promotion of Science 22K09825Japan Society for the Promotion of Science 24K12771Japan Society for the Promotion of Science 24K23528Ministry of Health, Labour and Welfare 23FC1043
6 · The paper itself

Abstract

purposeTo 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.

methodsThis retrospective observational study involved a review of medical records from 52 patients across 47 Japanese families; all clinically diagnosed with ACHM.

resultsCausative variants for ACHM were identified in 39 families through whole-exome sequencing, whole-genome sequencing, or polymerase chain reaction: PDE6C (13 families), RPGRIP1 -ex18-DEL (11 families), CNGA3 (11 families), CNGB3 (2 families), and GNAT2 (2 families). Patients with ACHM associated with RPGRIP1 -ex18-DEL variants did not exhibit significant difference in phenotype, including spherical equivalent refractive error, best-corrected visual acuity (BCVA), fundus appearance, ellipsoid zone grading of optical coherence tomography, and fundus autofluorescence pattern, compared with those with variants in CNGA3 or PDE6C at baseline (all, P > 0.05). For five patients with ACHM with RPGRIP1 -ex18-DEL variants, no change in BCVA or ellipsoid zone grading was noted over a follow-up period of >10 years (all, P > 0.05).

conclusionVariants 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.

Indexed as

Color Vision DefectsExonsProteinsSequence DeletionAdolescentAdultChildCytoskeletal ProteinsDNA Mutational AnalysisExome SequencingFemaleHumansJapanMalePedigreePhenotypeCytoskeletal ProteinsProteinsRPGRIP1 protein, humanachromatopsiaJapanese population

Identifiers

PMID41666299
PMCPMC13196858

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.