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Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery
  1. Jakob Siedlecki1,
  2. Susanna Koenig1,
  3. Claudia Catarino2,
  4. Markus M Schaumberger1,
  5. Benedikt Schworm1,
  6. Siegfried Georg Priglinger1,
  7. Guenther Rudolph1,
  8. Bettina von Livonius1,
  9. Thomas Klopstock2,
  10. Claudia S Priglinger1
  1. 1Department of Ophthalmology, Ludwig-Maximilians-Universität München, Munchen, Bayern, Germany
  2. 2Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Munchen, Bayern, Germany
  1. Correspondence to Dr Claudia S Priglinger, Department of Ophthalmology, Ludwig-Maximilians-Universität München, Munchen, Bayern, Germany; claudia.priglinger{at}med.uni-muenchen.de

Abstract

Objective In Leber’s hereditary optic neuropathy (LHON) in children and teenagers, the influence of age on visual prognosis has not yet been investigated.

Methods Patients from the mitoNET registry with LHON onset at age 4–16 years with at least 4 years of follow-up without treatment were included. Visual acuity (VA) at baseline, lowest VA ever recorded (nadir) and VA at end of follow-up were compared between childhood onset (ChO, ≤12 years of age) and early-teenage onset (eTO; 13–16 years).

Results Out of 231 patients with LHON, 19 met the inclusion criteria (8.2%). There were 11 patients in the ChO and 8 patients in the eTO group. Mean age at onset was 8.6 (SD 2.1) years (ChO) and 15.4 (SD 0.7) years (eTO) (p<0.00001). Follow-up was mean 184 (SD 129) months (ChO) and 119 (SD 78) months (eTO) (p=0.22). Baseline VA was similar between both groups in better (p=0.96) and worse eyes (p=0.54). In worse eyes, both groups deteriorated similarly (p=0.79) until nadir and showed similar recovery until end of follow-up (p=0.38). In better eyes, both groups deteriorated similarly (p=0.16) until nadir. From nadir until end of follow-up, better eyes in the ChO group showed a significantly better recovery (−0.35 (SD 0.36) vs −0.01 (SD 0.06) logMAR; p=0.02) than eTO eyes.

Conclusion Visual prognosis of LHON in children is much more favourable in cases of childhood onset (≤12 years of age) as compared with teenage onset (13–16 years), mostly due to better recovery from nadir in childhood onset.

  • optic nerve
  • visual perception

Data availability statement

Data are available upon reasonable request.

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Data availability statement

Data are available upon reasonable request.

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Footnotes

  • Contributors All authors performed data collection and analysis. JS, SK and CP wrote the manuscript. CP is the guarantor.

  • Funding This work was funded by the German Federal Ministry of Education and Research (BMBF, Bonn, Germany) through a grant to the German Network for Mitochondrial Disorders (mitoNET, 01GM1906A to TK). None of the funders had any role in the study design, data collection, data analysis, interpretation or writing of the manuscript.

  • Competing interests No author reports any financial interest relevant to this publication. JS has received speaker honoraria, consultancy fees and travel expenses from Novartis Pharma GmbH, Bayer AG, Allergan GmbH, Heidelberg Engineering GmbH, Carl Zeiss Meditec AG and Oculentis OSD Medical GmbH, all unrelated to this publication. BS has received previous speaker fees and travel expenses from Novartis Pharma GmbH and Topcon Corporation. TK has received research support, consultancy fees, speaker honoraria and travel funds from GenSight Biologics and Santhera Pharmaceuticals, as well as consultancy fees and speaker honoraria from Chiesi GmbH, all unrelated to this publication. SP has received speaker honoraria, consultancy fees and travel expenses from Novartis Pharma GmbH, Oertli AG, Bayer AG, Alcon Pharma GmbH, Allergan GmbH and Heidelberg Engineering GmbH, all unrelated to this publication. CP has received speaker honoraria from Novartis Pharma GmbH, all unrelated to this publication.

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