Evidence map›Paper›PMID 41942473›Full record

ArticleHuman genome variation2026

Clinical features of syndromic microphthalmia in two novel RARB variants.

Yoshito Koyanagi, Hazuki Morikawa-Anzai, Tomoyo Yoshida, Makiko Tominaga, Yuichi Abe, Rika Kosaki, Keiko Matsubara, Maki Fukami, Sachiko Nishina

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Yoshito KoyanagiDivision of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
Hazuki Morikawa-AnzaiDivision of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
Tomoyo YoshidaDivision of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
Makiko TominagaShowa Medical University Northern Yokohama Hospital, Center for Clinical Genetics and Genomic Medicine, Kanagawa, Japan.
Yuichi AbeDivision of Neurology, National Center for Child Health and Development, Tokyo, Japan.
Rika KosakiCenter for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Keiko MatsubaraDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Maki FukamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.ORCID http://orcid.org/0000-0001-9971-4035
Sachiko NishinaDivision of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here we describe unrelated Japanese patients with distinct novel heterozygous retinoic acid receptor beta (RARB) gene variants underlying syndromic microphthalmia-12: case 1 with a frameshift variant, c.1205_1206del, had bilateral microphthalmia, corneal opacity, anterior segment dysgenesis, widespread multiorgan anomalies, hypotonia and cognitive impairment; case 2 with a missense variant, c.844G>T had Peters anomaly, extreme microphthalmia, spasticity, profound psychomotor delay and refractory epilepsy. These findings highlight the need for RARB testing.

Identifiers

PMID41942473
PMCPMC13184296

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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.