Childhood-onset Leber hereditary optic neuropathy

Majander, Anna, Bowman, Richard, Poulton, Joanna, Antcliff, Richard J, Reddy, M Ashwin, Michaelides, Michel, Webster, Andrew R, Chinnery, Patrick F, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Moore, Anthony T and Yu-Wai-Man, Patrick 2017. Childhood-onset Leber hereditary optic neuropathy. British Journal of Ophthalmology 101 (11) , pp. 1505-1509. 10.1136/bjophthalmol-2016-310072

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Optometry and Vision Sciences
Subjects:	R Medicine > RE Ophthalmology
Publisher:	BMJ Publishing Group
ISSN:	0007-1161
Funders:	NIHR, MRC, Wellcome Trust
Date of First Compliant Deposit:	24 May 2017
Date of Acceptance:	23 February 2017
Last Modified:	05 Nov 2024 17:45
URI:	https://orca.cardiff.ac.uk/id/eprint/99560

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