Evidence map›Paper›PMID 39359914›Full record

ArticleFrontiers in medicine2024

A novel

Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano

Abstract readCase Reports
In one paragraph

Article in Frontiers in medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

3 citing papers in PubMed.

  1. Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant.Documenta ophthalmologica. Advances in ophthalmology · 2025
    Article
  2. Article
  3. Exploring rare mitochondrial DNA in Leber hereditary optic neuropathy.Advances in ophthalmology practice and research
    Article
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

10 authors.

Natsuki HigaDepartment of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan.
Takaaki HayashiDepartment of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan.
Kei MizobuchiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Maki IwasaDepartment of Ophthalmology, Shiga University of Medical Science, Otsu, Japan.
Shingo KubotaKubota Eye Clinic, Kusatsu, Shiga, Japan.
Kazuki KuniyoshiDepartment of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan.
Shuhei KameyaKameya Eye Clinic, Chiba, Japan.
Hiroyuki KondoDepartment of Ophthalmology, University of Occupational and Environmental Health, Fukuoka, Japan.
Mineo KondoDepartment of Ophthalmology, Mie University Graduate School of Medicine, Tsu City, Japan.
Tadashi NakanoDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.

Funding

Wellcome Trust FC001043
6 · The paper itself

Abstract

Introduction: In Japan, inherited retinal dystrophy caused by biallelic variants of the Case report: The patient, diagnosed with LCA, exhibited infantile nystagmus and reported experiencing night blindness since early childhood. At 27 years of age, the patient underwent an ophthalmologically evaluation. Corrected visual acuity was Snellen equivalent 20/133 in the right eye and Snellen equivalent 20/100 in the left eye. Fundus examination revealed alterations in the retinal pigment epithelium characterized by hypopigmentation and narrowing of retinal vessels. Fundus autofluorescence imaging demonstrated a generally diminished autofluorescent signal. Full-field electroretinography identified a generalized dysfunction of both rod and cone systems in each eye. Whole exome sequencing identified a novel missense variant in Conclusion: This study provides valuable insights into the genotype-phenotype correlation of

Indexed as

electroretinographyinherited retinal dystrophyLeber congenital amaurosisRPE65 gene mutationwhole exome sequencing

Identifiers

PMID39359914
PMCPMC11446184

What OpenQuestion holds

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Registered trials

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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.