Evidence map›Paper›PMID 39148310›Full record

ArticleOphthalmic genetics2024

A novel homozygous nonsense variant in

Blake M Hauser, Emily Place, Rachel Huckfeldt, Demetrios G Vavvas

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmic genetics, 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. Review
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

4 authors.

Blake M HauserHarvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA.
Emily PlaceHarvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA.
Rachel HuckfeldtHarvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA.
Demetrios G VavvasHarvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA.

Funding

Medical Scientist Training ProgramT32GM144273 · NIGMS · HARVARD MEDICAL SCHOOL · PI David Shumway Jones, Jacqueline A. Lees · 2022 to 2026
$14.7M
Necroptosis, neuroprotection and axonal regeneration in retina ganglion cell injuryR01EY025362 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI VAVVAS, DEMETRIOS · 2015 to 2018
$1.5M
Epitope focusing using structure-based immunogen design approachesF30AI160908 · NIAID · HARVARD MEDICAL SCHOOL · PI HAUSER, BLAKE MARIE · 2021 to 2023
$91k
4th Harvard Biennial International Ocular Regeneration Symposium: From Bench to BedsideR13EY031922 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI VAVVAS, DEMETRIOS · 2020 to 2020
$24k
NEI NIH HHS R01 EY025362NEI NIH HHS R13 EY031922NIAID NIH HHS F30 AI160908NIGMS NIH HHS T32 GM144273
6 · The paper itself

Abstract

introductionVariants in the

methodsComplete ocular examination, fundus photographs, autofluorescence, optical coherence tomography, electroretinography, and targeted sequencing of known inherited retinal disease-associated genes.

resultsA 25-year-old man monitored for 13 years complains of a lifelong history of stable reduced visual acuity (20/150), impaired color vision (1 of 14 plates), small-amplitude nystagmus, and photophobia without nyctalopia. He is also hyperopic (+7D), and his electroretinography shows significantly reduced rod and cone responses. Targeted genetic analysis revealed a novel homozygous variant in the

conclusionsA novel variant in

Indexed as

Codon, NonsenseElectroretinographyHomozygoteNight BlindnessAdultCalcium-Binding ProteinsEye Diseases, HereditaryGenetic Diseases, X-LinkedHumansMaleMyopiaPedigreePhotophobiaRetinal Cone Photoreceptor CellsRetinal Rod Photoreceptor CellsTomography, Optical CoherenceCABP4 protein, humanCalcium-Binding ProteinsCodon, NonsenseCalcium binding protein 4cone-rod disordercongenital cone-rod synaptic dysfunctionincomplete congenital stationary night blindness

Identifiers

PMID39148310
PMCPMC11629301

What OpenQuestion holds

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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.