Abstract
Background/objectivesREALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).Subjects/methodsDemographics and visual function data were collected from medical charts of LHON patients with visual loss. The study was conducted in 11 study centres in the United States of America and Europe. The collection period extended from the presymptomatic stage to at least more than one year after onset of vision loss (chronic stage). A Locally Weighted Scatterplot Smoothing (LOWESS) local regression model was used to analyse the evolution of best-corrected visual acuity (BCVA) over time.Results44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutation, 8 (18%) carried the m.3460G>A ND1 mutation, and 9 (20%) carried the m.14484T>C ND6 mutation. Fourteen (32%) patients were under 18 years old at onset of vision loss and 5 (11%) were below the age of 12. The average duration of follow-up was 32.5 months after onset of symptoms. At the last observed measure, mean BCVA was 1.46 LogMAR in ND4 patients, 1.52 LogMAR in ND1 patients, and 0.97 LogMAR in ND6 patients. The worst visual outcomes were reported in ND4 patients aged at least 15 years old at onset, with a mean BCVA of 1.55 LogMAR and no tendency for spontaneous recovery. The LOESS modelling curve depicted a severe and permanent deterioration of BCVA.ConclusionsAmongst LHON patients with the three primary mtDNA mutations, adult patients with the m.11778G>A ND4 mutation had the worst visual outcomes, consistent with prior reports.
Highlights
Leber hereditary optic neuropathy (LHON) is an inherited optic neuropathy caused by mitochondrial DNA
Treatment options for LHON remain limited, with some improvement demonstrated in subgroups of LHON patients treated with idebenone [20,21,22], and some early promising results with intravitreal gene therapy [23,24,25,26]
A total of 44 affected LHON patients were included in the REALITY study: 34/44 (77%) from European countries (France, Italy, Spain, and the United Kingdom) and 10/44 (23%) from the United States of America (Table 1)
Summary
Leber hereditary optic neuropathy (LHON) is an inherited optic neuropathy caused by mitochondrial DNA (mtDNA)Members of the LHON REALITY Study Group are listed below acknowledgements. Leber hereditary optic neuropathy (LHON) is an inherited optic neuropathy caused by mitochondrial DNA (mtDNA). * Patrick Yu-Wai-Man. approximately 50% of men and 10% of women who carry one of the primary LHON mutations will experience visual loss during their lifetimes, highlighting a higher male prevalence [8, 14, 16]. Three mtDNA point mutations account for about 90% of LHON cases: m.11778G>A in ND4, m.3460G>A in ND1, and m.14484T>C in ND6 [3, 4]. The m.11778G>A mutation is the most common cause of LHON worldwide and it is known to be a severe mutation with less than 15% of patients experiencing some degree of visual recovery [17, 18]. Treatment options for LHON remain limited, with some improvement demonstrated in subgroups of LHON patients treated with idebenone [20,21,22], and some early promising results with intravitreal gene therapy [23,24,25,26]
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