Childhood-onset Leber hereditary optic neuropathyReport as inadecuate

Childhood-onset Leber hereditary optic neuropathy - Download this document for free, or read online. Document in PDF available to download.

Reference: Majander, A, Bowman, R, Poulton, J et al., (2017). Childhood-onset Leber hereditary optic neuropathy. British Journal of Ophthalmology.Citable link to this page:


Childhood-onset Leber hereditary optic neuropathy

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

Author: Majander, A - - - Bowman, R - - - Poulton, J - Oxford, MSD, Obstetrics and Gynaecology fundingMedical Research Council grantNumbe



Related documents