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Background/objectives REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON). Subjects/methods Demographics 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. Results 44 LHON patients were included; 27 (61%) carried the m.11778G&gt;A  ND4  mutation, 8 (18%) carried the m.3460G&gt;A  ND1  mutation, and 9 (20%) carried the m.14484T&gt;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. Conclusions Amongst LHON patients with the three primary mtDNA mutations, adult patients with the m.11778G&gt;A  ND4  mutation had the worst visual outcomes, consistent with prior reports.

Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study