Evidence map›Paper›PMID 40724865›Full record

ArticleInternational journal of molecular sciences2025

Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.

Maximilian D Kong, Jedrzej Golebka, Vanessa R Anderson, Caroline Bao, Johnathan A Bailey, Abdhel Exinor, Aykut Demirkol, Stephen H Tsang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
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  3. Review
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  5. 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

8 authors.

Maximilian D KongJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.ORCID 0009-0005-5943-8255
Jedrzej GolebkaJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.ORCID 0009-0003-2375-5465
Vanessa R AndersonJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.ORCID 0000-0002-5615-7379
Caroline BaoJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.ORCID 0000-0001-6208-9264
Johnathan A BaileyJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.
Abdhel ExinorJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.
Aykut DemirkolJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.ORCID 0000-0001-6738-1643
Stephen H TsangJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.ORCID 0000-0001-9082-2427

Funding

Foundation Fighting Blindness TA-GT-0321-0802-COLU-TRAPGebroe Family Foundation NALynette and Richard Jaffe Foundation NANIH HHS 1R01EY018213-08NIH HHS 1R01EY024698-23NIH HHS 1R01EY033770-24NIH HHS 1R24EY027285-21NIH HHS 1R24EY028758-22NIH HHS 1U01EY030580-20NIH HHS 1U01EY034590-22NYEE Foundation NAResearch to Prevent Blindness Physician-Scientist Award, Unrestricted FundsRosenbaum Family Foundation NA
6 · The paper itself

Abstract

To compare the clinical characteristics of inherited retinal diseases (IRDs) caused by biallelic versus monoallelic variants in the

Indexed as

AC133 AntigenBestrophinsEye ProteinsRetinal DiseasesAdolescentAdultAllelesChildChild, PreschoolElectroretinographyFemaleHumansMaleMiddle AgedMutationPhenotypeAC133 AntigenBEST1 protein, humanBestrophinsEye ProteinsPROM1 protein, humanautofluorescenceBestrophin 1 (BEST1)electroretinogram (ERG)inherited retinal disease (IRD)optical coherence tomography (OCT)Prominin 1 (PROM1)retinitis pigmentosa (RP)RP1 Axonemal Microtubule-Associated Protein (RP1)

Identifiers

PMID40724865
PMCPMC12294461

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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.