Evidence map›Paper›PMID 31765440›Full record

ArticlePloS one2019

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Andrew T Chen, Lauren Brady, Dennis E Bulman, Arun N E Sundaram, Amadeo R Rodriguez, Edward Margolin, John S Waye, Mark A Tarnopolsky

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

Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.5field-weighted citation impact, top 34% 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

7 citing papers in PubMed, 16 citations in OpenAlex.

  1. Maculopapillary Bundle Degeneration in Optic Neuropathies.Current neurology and neuroscience reports · 2024
    Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. DominantBrain communications · 2021
    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

8 authors at 4 institutions in 1 country.

Andrew T ChenDepartment of Pediatrics, McMaster University, Hamilton, ON, Canada.ORCID 0000-0003-0396-9960
Lauren BradyDepartment of Pediatrics, McMaster University, Hamilton, ON, Canada.
Dennis E BulmanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Arun N E SundaramDepartment of Ophthalmology and Vision Sciences, Sunnybrook Health Sciences Center, University of Toronto, Toronto, ON, Canada.
Amadeo R RodriguezDepartment of Ophthalmology, McMaster University, Hamilton, ON, Canada.
Edward MargolinUniversity of Toronto Department of Ophthalmology and Visual Sciences, Mount Sinai Hospital, Toronto, ON, Canada.
John S WayeDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
Mark A TarnopolskyDepartment of Pediatrics, McMaster University, Hamilton, ON, Canada.
McMaster University · CAMount Sinai Hospital · CASunnybrook Health Science Centre · CAUniversity of Ottawa · CA

Funding

CIHR 143325
6 · The paper itself

Abstract

purposeTo assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA).

designRetrospective cohort study.

methods97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA. All patients were sent for NGS including a 22 nuclear gene panel and/or complete mitochondrial DNA (mtDNA) sequencing. Positive genetic test results and abnormal vibration sensation were compared in patients +/- environmental exposures or a family history.

results19/94 (20.2%) had a positive nuclear variant, of which 15/19 (78.9%) were in the OPA1 gene. No positive mtDNA variants were identified. The detection of a positive genetic variant was significantly different in patients who reported excessive ethanol use, but not in patients who smoke (0/19 (0%) vs. 19/78 (24.4%), P = 0.0164 and 4/22 (18.2%) vs. 15/74 (20.3%), P = 0.829, respectively). Patients with a positive family history were more likely to have a positive genetic variant compared to patients with a negative family history (P = 0.0112). There were significantly more excessive drinkers with an abnormal vibration sensation (P = 0.026), and with a similar trend in smokers (P = 0.074).

conclusionsAll positive genetic variants were identified in nuclear genes. We identified a potential independent pathophysiological link between a history of excessive ethanol consumption and bilateral OA. Further investigations should evaluate and identify potential environmental risk factors for OA.

Indexed as

Genetic VariationAconitate HydrataseAlcohol DrinkingDNA, MitochondrialEnvironmental ExposureGTP PhosphohydrolasesHigh-Throughput Nucleotide SequencingHumansMembrane ProteinsOptic AtrophyRetrospective StudiesRisk FactorsSequence Analysis, DNASmokingACO2 protein, humanAconitate HydrataseDNA, MitochondrialGTP PhosphohydrolasesMembrane ProteinsOPA1 protein, humanwolframin protein

Identifiers

PMID31765440
PMCPMC6876833
OpenAlexW2991149171

What OpenQuestion holds

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Registered trials

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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.