Evidence map›Paper›PMID 38892339›Full record

ArticleInternational journal of molecular sciences2024

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Rene Moya, Clémentine Angée, Sylvain Hanein, Fabienne Jabot-Hanin, Josseline Kaplan, Isabelle Perrault, Jean-Michel Rozet, Lucas Fares Taie

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2024. 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. Trial
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.

Rene MoyaDepartment of Ophthalmology, Hospital del Salvador, Universidad de Chile, Santiago 7500922, Chile.
Clémentine AngéeLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Sylvain HaneinBioinformatic Platform, INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.ORCID 0000-0001-5817-6330
Fabienne Jabot-HaninBioinformatic Platform, INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Josseline KaplanLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Isabelle PerraultLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.ORCID 0000-0002-8560-1379
Jean-Michel RozetLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.ORCID 0000-0001-7951-7886
Lucas Fares TaieLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.ORCID 0000-0002-4613-0711

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy (EOSRD) stand as primary causes of incurable childhood blindness. This study investigates the clinical and molecular architecture of syndromic and non-syndromic LCA/EOSRD within a Chilean cohort (67 patients/60 families). Leveraging panel sequencing, 95.5% detection was achieved, revealing 17 genes and 126 variants (32 unique).

Indexed as

MutationRetinal DystrophiesAdolescentAlcohol OxidoreductasesAllelesChildChild, PreschoolChileEye Diseases, HereditaryEye ProteinsFemaleGenetic VariationHumansLeber Congenital AmaurosisMaleMembrane ProteinsAlcohol OxidoreductasesCRB1 protein, humanEye ProteinsMembrane ProteinsNerve Tissue ProteinsRDH12 protein, humanChileearly-onset retinal dystrophy (EOSRD)Leber congenital amaurosis (LCA)

Identifiers

PMID38892339
PMCPMC11172861

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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.