Evidence map›Paper›PMID 24603424›Full record

ReviewEye (London, England)2014

Treatment strategies for inherited optic neuropathies: past, present and future.

P Yu-Wai-Man, M Votruba, A T Moore, P F Chinnery

Open access · hybridAbstract readReview
In one paragraph

Review in Eye (London, England), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed, 2 pooled it
7.7field-weighted citation impact, top 2% 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

65 citing papers in PubMed, 2 syntheses or guidelines pooled it, 140 citations in OpenAlex.

  1. Pooled it
  2. Therapeutic role of erythropoietin in methanol induced optic neuropathy: a systematic review.Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences · 2024
    Pooled it
  3. Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society · 2020
    Trial
  4. Trial
  5. Article
  6. Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. International journal of molecular sciences · 2023
    Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  20. Oxidative Stress in Optic Neuropathies.Antioxidants (Basel, Switzerland) · 2021
    Review

5 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

4 authors at 4 institutions in 1 country.

P Yu-Wai-Man1] Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK [2] Departments of Neurology and Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK [3] Moorfields Eye Hospital, London, UK [4] NIHR Biomedical Research Centre, UCL Institute of Ophthalmology, University College London, London, UK.
M Votruba1] School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK [2] Cardiff Eye Unit, University Hospital of Wales, Cardiff, UK.
A T Moore1] Moorfields Eye Hospital, London, UK [2] NIHR Biomedical Research Centre, UCL Institute of Ophthalmology, University College London, London, UK.
P F Chinnery1] Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK [2] Departments of Neurology and Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Cardiff University · GBNewcastle University · GBRoyal Victoria Infirmary · GBUniversity College London · GB

Funding

Medical Research Council G0700949Medical Research Council G0701386Medical Research Council G1002570Medical Research Council MR/K000608/1Wellcome Trust 096919Wellcome Trust 101876
6 · The paper itself

Abstract

Bilateral visual loss secondary to inherited optic neuropathies is an important cause of registrable blindness among children and young adults. The two prototypal disorders seen in clinical practice are Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). About 90% of LHON cases are due to one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A, and m.14484T>C, which affect critical complex I subunits of the mitochondrial respiratory chain. The majority of patients with DOA harbour pathogenic mutations within OPA1, a nuclear gene that codes for a multifunctional inner mitochondrial membrane protein. Despite their contrasting genetic basis, LHON and DOA share overlapping pathological and clinical features that serve to highlight the striking tissue-specific vulnerability of the retinal ganglion cell (RGC) layer to disturbed mitochondrial function. In addition to severe visual loss secondary to progressive optic nerve degeneration, a subgroup of patients will also develop a more aggressive syndromic phenotype marked by significant neurological deficits. The management of LHON and DOA remains largely supportive, but major advances in our understanding of the mechanisms underpinning RGC loss in these two disorders are paving the way for novel forms of treatment aimed at halting or reversing visual deterioration at different stages of the disease process. In addition to neuroprotective strategies for rescuing RGCs from irreversible cell death, innovative in vitro fertilisation techniques are providing the tantalising prospect of preventing the germline transmission of pathogenic mtDNA mutations, eradicating in so doing the risk of disease in future generations.

Indexed as

DNA, MitochondrialHumansMolecular BiologyOptic Atrophy, Autosomal DominantOptic Atrophy, Hereditary, LeberDNA, Mitochondrial

Identifiers

PMID24603424
PMCPMC4017118
OpenAlexW1995208181

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.