Evidence map›Paper›PMID 28510639›Full record

ReviewHuman molecular genetics2017

Toward an elucidation of the molecular genetics of inherited retinal degenerations.

G Jane Farrar, Matthew Carrigan, Adrian Dockery, Sophia Millington-Ward, Arpad Palfi, Naomi Chadderton, Marian Humphries, Anna Sophia Kiang, Paul F Kenna, Pete Humphries

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 1 pooled it
–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

59 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026
    Review
  4. Article
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  12. Review
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  19. Article
  20. Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.Investigative ophthalmology & visual science · 2023
    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

10 authors.

G Jane FarrarInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Matthew CarriganInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Adrian DockeryInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Sophia Millington-WardInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Arpad PalfiInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Naomi ChaddertonInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Marian HumphriesInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Anna Sophia KiangInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.
Paul F KennaResearch Foundation, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland.
Pete HumphriesInstitute of Genetics, School of Genetics and Microbiology, University of Dublin, Trinity College, Dublin 2, Ireland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP). However, targeted sequencing studies of exons from known IRD genes have resulted in the identification of candidate mutations in only approximately 60% of IRD cases. Given recent advances in the development of gene-based medicines, characterization of IRD patient cohorts for known IRD genes and elucidation of the molecular pathologies of disease in those remaining unresolved cases has become an endeavor of the highest priority. Here, we provide an outline of progress in this area.

Indexed as

Conserved SequenceExonsEye ProteinsHumansMutationPedigreeRetinal DegenerationRetinal DystrophiesRetinitis PigmentosaSequence Analysis, DNAEye Proteins

Identifiers

PMID28510639
PMCPMC5886474

What OpenQuestion holds

Textmetadata
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.