Evidence map›Paper›PMID 31342635›Full record

ArticleVeterinary ophthalmology2020

Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study.

Doreen Becker, Jessica K Niggel, Sue Pearce-Kelling, Ronald C Riis, Gustavo D Aguirre

Abstract read
In one paragraph

Article in Veterinary ophthalmology, 2020. 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. Diagnostic Ophthalmology.The Canadian veterinary journal = La revue veterinaire canadienne · 2025
    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

5 authors.

Doreen BeckerLeibniz Institute for Farm Animal Biology (FBN), Institute for Genome Biology, Dummerstorf, Germany.ORCID https://orcid.org/0000-0003-0425-6284
Jessica K NiggelSection of Ophthalmology, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA.
Sue Pearce-KellingOptiGen, LLC, Cornell Business and Technology Park, Ithaca, NY.
Ronald C RiisCollege of Veterinary Medicine, Cornell University, Ithaca, NY.
Gustavo D AguirreSection of Ophthalmology, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA.ORCID https://orcid.org/0000-0002-5228-256X

Funding

MODELS OF HEREDITY RETINAL DEGENERATIONR01EY006855 · NEI · UNIVERSITY OF PENNSYLVANIA · PI GUSTAVO David AGUIRRE, William A. Beltran · 1992 to 2026
$20.7M
Scientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Qi N Cui · 1985 to 2026
$19.5M
NEI NIH HHS EY-06855NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY006855Poodle Club of America FoundationVan Sloun Fund for Canine Genetic Research
6 · The paper itself

Abstract

objectiveTo conduct a genetic and candidate gene association study with samples from phenotype-ascertained dogs to identify putative disease-associated gene/mutation for optic nerve hypoplasia (ONH) in the miniature poodle. ANIMALS STUDIED: A total of 43 miniature poodles from the United States and Europe, nine affected bilaterally with ONH, were included in the study. Pedigree information was recorded. PROCEDURES: A pedigree including all animals studied was assembled. Twenty-one genes typically expressed in ganglion cells or that are associated with ocular malformations and have a critical function in eye and neural retina development were selected. Exons and exon-intron boundaries of eight genes were sequenced in four ONH cases and four controls. Furthermore, cases and controls were genotyped with the Illumina CanineHD BeadChip to obtain genotypes for 13 additional candidate genes for haplotype association.

resultsThe assembled pedigree connected all ONH-affected dogs to a possible common founder. Identified variants and haplotypes of the tested candidate genes did not segregate with the phenotype using Identity by Descent approach assuming autosomal recessive inheritance with variable but yet unknown penetrance.

conclusionsPedigree analysis did not reveal the inheritance pattern. There is no evidence of association of the evaluated candidate genes with ONH; therefore, the screened candidate genes can provisionally be ruled out as causally associated with the disease.

Indexed as

AnimalsDog DiseasesDogsGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHomeodomain ProteinsOptic Nerve HypoplasiaOtx Transcription FactorsPedigreeSOXB1 Transcription FactorsTubulinHomeodomain ProteinsOtx Transcription FactorsSOXB1 Transcription FactorsTubulincandidate genesdogmicropapillaminiature poodleoptic nerve hypoplasia

Identifiers

PMID31342635
PMCPMC6980232

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.