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Childhood-onset Leber hereditary optic neuropathy
Anna Majander1,2,3, Richard Bowman4, Joanna Poulton5
1UCL Institute of Ophthalmology, London, UK.
The British Journal of Ophthalmology
|March 19, 2017
Summary
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.
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