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Childhood-onset Leber hereditary optic neuropathy
Anna Majander1,2,3, Richard Bowman4, Joanna Poulton5
1UCL Institute of Ophthalmology, London, UK.
Insights
Childhood-onset Leber hereditary optic neuropathy (LHON) presents varied visual loss patterns. While prognosis is better, some children face legal blindness, necessitating early diagnosis for unexplained vision loss.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Leber hereditary optic neuropathy (LHON) onset in childhood is uncommon.
- This study focuses on the clinical and genetic characteristics of pediatric LHON cases.
Purpose of the Study:
- To describe the clinical and molecular genetic features of childhood-onset LHON.
- To analyze visual loss patterns and outcomes in pediatric LHON patients.
Main Methods:
- Retrospective analysis of a UK pediatric LHON cohort (27 patients).
- Systematic literature review identifying 69 additional cases.
- Inclusion criteria: visual loss ≤12 years, confirmed pathogenic mitochondrial DNA mutations (m.3460G>A, m.11778G>A, m.14484T>C).
Main Results:
- Three visual loss patterns observed: classical acute (63%), slowly progressive (15%), and insidious/subclinical (22%).
- Diagnostic delays of 3-15 years occurred in insidious onset cases.
- Spontaneous visual recovery varied by mutation; 39% achieved BCVA ≥0.5, while 19% had BCVA <0.05.
Conclusions:
- Childhood-onset LHON generally has a better visual prognosis.
- About 20% of patients may remain legally blind in the UK.
- Consider LHON in children with unexplained vision loss and optic disc pallor, especially with insidious onset.
Background:
The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup.
Methods:
Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included if visual loss occurred at the age of 12 years or younger with a confirmed pathogenic mitochondrial DNA mutation: m.3460G>A, m.11778G>A or m.14484T>C.
Results:
In the UK paediatric LHON cohort, three patterns of visual loss and progression were observed: (1) classical acute (17/27, 63%); (2) slowly progressive (4/27, 15%); and (3) insidious or subclinical (6/27, 22%). Diagnostic delays of 3-15 years occurred in children with an insidious mode of onset. Spontaneous visual recovery was more common in patients carrying the m.3460G>A and m.14484T>C mutations compared with the m.11778G>A mutation. Based a meta-analysis of 67 patients with available visual acuity data, 26 (39%) patients achieved a final best-corrected visual acuity (BCVA) ≥0.5 Snellen decimal in at least one eye, whereas 13 (19%) patients had a final BCVA <0.05 in their better seeing eye.
Conclusions:
Although childhood-onset LHON carries a relatively better visual prognosis, approximately 1 in 5 patients will remain within the visual acuity criteria for legal blindness in the UK. The clinical presentation can be insidious and LHON should be considered in the differential diagnosis when faced with a child with unexplained subnormal vision and optic disc pallor.
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