Evidence map›Paper›PMID 23701314›Full record

ReviewClinical genetics2013

Genes and mutations causing retinitis pigmentosa.

S P Daiger, L S Sullivan, S J Bowne

Registry-linked trialOpen access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05537220 (NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa), which is not on this map. Cited by 377 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
377citing papers in PubMed, 2 pooled it
20.8field-weighted citation impact, top 1% 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.

NCT05537220 phase3active not recruitingnot on this mapstarted 2023, after this paper: background citation

NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa

TypeinterventionalSponsorJohns Hopkins UniversityRan2023 to 2030Enrolled485ConditionsRetinitis PigmentosaArmsN-acetylcysteine, Placebo
3 · Its place in the literature

Who cites it

377 citing papers in PubMed, 2 syntheses or guidelines pooled it, 619 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Oral minocycline for the treatment of retinitis pigmentosa-associated cystoid macular edema: results of a phase I/II clinical trial.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023
    Trial
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review

317 more citing papers are in PubMed but not listed here.

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

3 authors at 1 institution in 1 country.

S P DaigerHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA. stephen.p.daiger@uth.tmc.edu
L S Sullivan
S J Bowne
The University of Texas Health Science Center at Houston · US

Funding

DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASESR01EY007142 · NEI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI DAIGER, STEPHEN P · 1989 to 2017
$4.1M
Foundation Fighting Blindness 4799611Foundation Fighting Blindness 4799612Foundation Fighting Blindness 4799613Foundation Fighting Blindness BR-GE-0510-0488-UTXFoundation Fighting Blindness BR-GE-0607-0442-UTX-WGNEI NIH HHS EY007142NEI NIH HHS R01 EY007142
6 · The paper itself

Abstract

Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. Progress in finding treatments is dependent on determining the genes and mutations causing these diseases, which includes both gene discovery and mutation screening in affected individuals and families. Despite the complexity, substantial progress has been made in finding RP genes and mutations. Depending on the type of RP, and the technology used, it is possible to detect mutations in 30-80% of cases. One of the most powerful approaches to genetic testing is high-throughput 'deep sequencing', that is, next-generation sequencing (NGS). NGS has identified several novel RP genes but a substantial fraction of previously unsolved cases have mutations in genes that are known causes of retinal disease but not necessarily RP. Apparent discrepancy between the molecular defect and clinical findings may warrant reevaluation of patients and families. In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease.

Indexed as

Genetic Association StudiesGenomicsHumansMutationRetinitis Pigmentosagenetic screeninginherited retinal diseasesnext-generation sequencingphenotype-genotype reconciliationretinitis pigmentosatargeted-capture sequencing

Identifiers

PMID23701314
PMCPMC3856531
OpenAlexW1503104403

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.