ArticleCase reports in ophthalmology
Leber Hereditary Optic Neuropathy-Associated Novel Mutation in
Article in Case reports in ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.
What it found
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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.
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.
Who cites it
1 citing paper in PubMed.
Corrections and comments
- Erratum issued
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Leber hereditary optic neuropathy (LHON) is a hereditary optic neuropathy mainly caused by mutations at 1,178, 14,484, and 3,460 in mitochondrial DNA. Patients with LHON have a higher risk of developing multiple sclerosis (MS), a coexistence also known as Harding's syndrome. A growing body of evidence shows that other mitochondrial and non-mitochondrial mutations can lead to LHON and Harding's syndrome. Herein, we report a novel mutation in Case Presentation: A 35-year-old woman with bilateral painless optic neuropathy presented to neuro-ophthalmology clinic. Her blood work-up did not reveal any nutritional deficiencies, and she did not respond to steroid therapy. Genetic test revealed a m.1737A>G mutation in Conclusion:
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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.