Evidence map›Paper›PMID 39232248›Full record

ArticleOphthalmic genetics2024

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene,

Grace A Borchert, Morag E Shanks, Jennifer Whitfield, Penny Clouston, Shabnam Raji, Sian Sperring, Jennifer A Thompson, Kanmin Xue, Samantha R De Silva, Susan M Downes and 2 more

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. 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

12 authors.

Grace A BorchertNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Morag E ShanksOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jennifer WhitfieldOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Penny CloustonOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Shabnam RajiNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Sian SperringOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Washington, Australia.
Kanmin XueNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Samantha R De SilvaNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Susan M DownesNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Robert E MacLarenNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Jasmina Cehajic-KapetanovicNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background

methodsA retrospective analysis of ophthalmic history, examination, retinal imaging, electrophysiology and microperimetry was performed as well as genetic testing with

resultsA systemically well 28-year-old female of Pakistani ethnicity with parental consanguinity and no relevant family history, presented with childhood-onset poor central vision and photophobia. Best-corrected visual acuity and colour vision were reduced (0.5 LogMAR, 6/17 Ishihara plates (right) and 0.6 LogMAR, 3/17 Ishihara plates (left). Fundus examination showed no pigmentary retinopathy, no macular staphyloma and autofluorescence was unremarkable. Optical coherence tomography showed subtle signs of intermittent disruption of the ellipsoid zone. Microperimetry demonstrated a reduction in central retinal sensitivity. Electrodiagnostic testing confirmed a reduction in cone-driven responses. Whole-genome sequencing identified an in-frame homozygous deletion of 12 base pairs at c.335_346del in

conclusionsThe non-syndromic cone dystrophy phenotype reported herein expands the genotypic and phenotypic spectra of

Indexed as

CiliopathiesPedigreePhenotypeAdultCone DystrophyConsanguinityFemaleGenotypeHomozygoteHumansMutationRetrospective StudiesTomography, Optical CoherenceVisual AcuityC21orf2CFAP410ciliopathycone dystrophygene therapyretinitis pigmentosaskeletal abnormalities

Identifiers

PMID39232248
PMCPMC11614046

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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.