@article {1589769,
	title = {Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study},
	journal = {Eye (Lond)},
	volume = {36},
	number = {4},
	year = {2022},
	month = {2022 Apr},
	pages = {818-826},
	abstract = {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\&nbsp;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\&nbsp;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.},
	keywords = {Adolescent, Adult, DNA, Mitochondrial, Europe, Humans, Mutation, Optic Atrophy, Hereditary, Leber, Retrospective Studies},
	issn = {1476-5454},
	doi = {10.1038/s41433-021-01535-9},
	author = {Yu-Wai-Man, Patrick and Newman, Nancy J and Carelli, Valerio and La Morgia, Chiara and Biousse, Val{\'e}rie and Bandello, Francesco M and Clermont, Catherine Vignal and Campillo, Lorena Castillo and Leruez, Stephanie and Moster, Mark L and Cestari, Dean M and Foroozan, Rod and Sadun, Alfredo and Karanjia, Rustum and Jurkute, Neringa and Blouin, Laure and Taiel, Magali and Sahel, Jos{\'e}-Alain and LHON REALITY Study Group}
}
