Evidence map›Paper›PMID 33836713›Full record

ArticleBMC ophthalmology2021

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

Saoud Al-Khuzaei, Karl A Z Hudspith, Suzanne Broadgate, Morag E Shanks, Penny Clouston, Andrea H Németh, Stephanie Halford, Susan M Downes

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 48% of its field
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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

8 authors at 2 institutions in 1 country.

Saoud Al-Khuzaei *Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Karl A Z Hudspith *Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Suzanne BroadgateNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Morag E ShanksOxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Penny CloustonOxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Andrea H NémethNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Stephanie HalfordNuffield 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. susan.downes@eye.ox.ac.uk.ORCID http://orcid.org/0000-0001-7373-2665
Nuffield Orthopaedic Centre · GBOxford University Hospitals NHS Trust · GB

Funding

NIHR Clinical Research Network Thames Valley and South Midlands (GB) NA
6 · The paper itself

Abstract

backgroundWe present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. CASE PRESENTATION: A 43-year-old female with bull's eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. In addition, the ABCA4 variant was not identified in the sister originally diagnosed with Stargardt disease. Next generation sequencing identified a heterozygous c.121C > T, p.R41W missense mutation in CRX in all 3 affected members.

conclusionsWe describe a common phenotype, but with variable age at onset, with autosomal dominant inheritance and reduced penetrance in a family found to have a pathogenic sequence variant in CRX. This illustrates the importance of panel based molecular genetic testing accompanied by family studies to establish a definitive diagnosis.

Indexed as

Macular DegenerationRetinal DystrophiesAdultATP-Binding Cassette TransportersFemaleHigh-Throughput Nucleotide SequencingHumansMutationPedigreePhenotypeStargardt DiseaseABCA4 protein, humanATP-Binding Cassette TransportersABCA4 sequence variant, mutationCRXMacular dystrophyNext generation sequencingPhenotype/genotype, reduced penetrance, family surveyRetina

Identifiers

PMID33836713
PMCPMC8034119
OpenAlexW3150269931

What OpenQuestion holds

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LicenceCC BY
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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.