Evidence map›Paper›PMID 42077800›Full record

ArticleCase reports in ophthalmology

Two Novel Variants in MT-RNR1 Gene Associated with Hereditary Optic Neuropathy: A Case Report.

Sara KamaliZonouzi, Jonathan Micieli

Abstract readCase Reports
In one paragraph

Article in Case reports in ophthalmology. 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

2 authors.

Sara KamaliZonouziSchool of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Jonathan MicieliDepartment of Ophthalmology, Kensington Vision and Research Centre, Toronto, ON, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Hereditary optic neuropathies are primarily disorders of mitochondrial dysfunction leading to the metabolic failure of the highly energy-dependent retinal ganglion cells. Beyond the canonical variants found in Case Presentations: A 55-year-old woman with painless progressive optic neuropathy presented with bilateral central scotomas and temporal optic disc pallor. Nutritional, inflammatory, and demyelinating causes were excluded. Genetic testing revealed Conclusion:

Indexed as

Hereditary optic neuropathym.1019A>Gm.1183T>CMT-RNR1

Identifiers

PMID42077800
PMCPMC13134846

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.