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Neuro-ophthalmology and strabismus
Neuroimaging changes in the pregeniculate visual pathway and chiasmal enlargement in Leber hereditary optic neuropathy
  1. Xintong Xu1,2,
  2. Huanfen Zhou2,
  3. Mingming Sun2,
  4. Yuyu Li2,
  5. Biyue Chen2,
  6. Xiyun Chen2,
  7. Quangang Xu2,
  8. Patrick Yu-Wai-Man3,4,5,6,
  9. Shihui Wei2
  1. 1 Medical School of Chinese PLA, Beijing, China
  2. 2 Department of Ophthalmology, Third Medical Center of Chinese PLA General Hospital, Beijing, China
  3. 3 John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit,Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
  4. 4 Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  5. 5 Moorfields Eye Hospital NHS Foundation Trust, London, UK
  6. 6 Institute of Ophthalmology, University College London, London, UK
  1. Correspondence to Dr Shihui Wei; weishihui706{at}hotmail.com; Dr Patrick Yu-Wai-Man; py237{at}cam.ac.uk

Abstract

Purpose To describe the pattern of MRI changes in the pregeniculate visual pathway in Leber hereditary optic neuropathy (LHON).

Method This retrospective observational study enrolled 60 patients with LHON between January 2015 and December 2021. The abnormal MRI features seen in the pregeniculate visual pathway were investigated, and then correlated with the causative mitochondrial DNA (mtDNA) mutation, the distribution of the MRI lesions and the duration of vision loss.

Result The cohort included 48 (80%) males and 53 (88%) had bilateral vision loss. The median age of onset was 17.0 years (range 4.0–58.0). 28 (47%) patients had the m.11778G>A mutation. 34 (57%) patients had T2 hyperintensity (HS) in the pregeniculate visual pathway and 13 (22%) patients with chiasmal enlargement. 20 patients (71%) carrying the m.11778G>A mutation had T2 HS, significantly more than the 14 patients (44%) with T2 HS in the other LHON mutation groups (p=0.039). Furthermore, significantly more patients in the m.11778G>A group (16 patients (57%)) had T2 HS in optic chiasm (OCh)/optic tract (OTr) than the other LHON mutation groups (7 patients (22%), p=0.005). Optic chiasmal enlargement was more common in patients with vision loss duration <3 months compared with those ≥3 months (p=0.028).

Conclusion T2 HS in the pregeniculate visual pathway is a frequent finding in LHON. Signal changes in the OCh/OTr and chiasmal enlargement, in particular within the first 3 months of visual loss, were more commonly seen in patients carrying the m.11778G>A mtDNA mutation, which may be of diagnostic significance.

  • optic nerve
  • visual pathway
  • imaging

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

https://doi.org/10.1136/bjo-2023-324628

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary information.

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    Footnotes

    • XX, HZ and MS are joint first authors.

    • XX, HZ and MS contributed equally.

    • Contributors XX, HZ and MS designed this study. XX, MS, YL, BC, XC and QX collected and managed the data. XX and ZH analysed the data. PY-W-M and SW conducted critical revision of the manuscript for important intellectual content.SW is responsible for the overall content as guarantor.

    • Funding This research was funded by a grant from the Ministry of Science and Technology of the People’s Republic of China Core Project (2018YFE0113900); National Natural Science Foundation of China (82101110).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.