Evidence map›Paper›PMID 42073993›Full record

ArticleInternational journal of molecular sciences2026

Comparisons of Genetic and Clinical Findings in Patients with Syndromic to Non-Syndromic Familial Exudative Vitreoretinopathy.

Sho Naruse, Takaaki Hayashi, Tomoko Tsukahara-Kawamura, Itsuka Matsushita, Tatsuo Nagata, Sachiko Nishina, Takao Endo, Shunji Kusaka, Hiroyuki Kondo

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

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

9 authors.

Sho NaruseDepartment of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan.
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan.ORCID 0000-0002-1535-0279
Tomoko Tsukahara-KawamuraDepartment of Ophthalmology, Fukuoka University School of Medicine, Fukuoka 814-0180, Japan.
Itsuka MatsushitaDepartment of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan.
Tatsuo NagataDepartment of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan.
Sachiko NishinaDivision of Ophthalmology, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Takao EndoDepartment of Ophthalmology, Osaka Women's and Children's Hospital, Izumi 594-1101, Japan.ORCID 0009-0006-6457-2368
Shunji KusakaDepartment of Ophthalmology, Kindai University Faculty of Medicine, Sakai 590-0197, Japan.ORCID 0000-0002-8364-0948
Hiroyuki KondoDepartment of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan.ORCID 0000-0002-3194-152X

Funding

Japan Society for the Promotion of Science 23K09053The Ministry of Health, Labour and Welfare, Japan JPMH23FC104
6 · The paper itself

Abstract

To compare the genetic causes, prevalence, and clinical characteristics of syndromic and non-syndromic familial exudative vitreoretinopathy (FEVR). A total of 281 patients with FEVR who underwent clinical and genetic evaluation at five ophthalmological institutions in Japan between 2010 and 2023 were included. Whole-exome sequencing, Sanger sequencing, or karyotype analysis was performed using blood samples from probands and available family members. Clinical characteristics of FEVR probands were assessed according to the presence or absence of systemic abnormalities. Among the 281 FEVR probands, 42 (15%) had syndromic FEVR and 239 (85%) had non-syndromic FEVR. Syndromic FEVR was more frequently diagnosed during infancy (95% vs. 57%,

Indexed as

Familial Exudative Vitreoretinopathiesbeta CateninChildChild, PreschoolExome SequencingEye ProteinsFemaleHumansInfantJapanKinesinsLow Density Lipoprotein Receptor-Related Protein-5MaleMutationNerve Tissue ProteinsPedigreebeta CateninEye ProteinsKIF11 protein, humanKinesinsLow Density Lipoprotein Receptor-Related Protein-5LRP5 protein, humanNDP protein, humanNerve Tissue ProteinsTetraspaninsTSPAN12 protein, humanCTNNB1DOCK6familial exudative vitreoretinopathyFEVRKIF11NDPsyndromic FEVR

Identifiers

PMID42073993
PMCPMC13115744

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