biostudies-literatureYu-Wai-Man PNEI NIH HHSTelethonFight for SightMedical Research CouncilNational Institute for Health Research (NIHR)GenSight BiologicsSight Research UK818-826https://www.ebi.ac.uk/biostudies/studies/S-EPMC8956580biostudies-literatureUnknown36(4)<h4>Background/objectives</h4>REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).<h4>Subjects/methods</h4>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.<h4>Results</h4>44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutatiEye (London, England)Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.PMC89565801570/157124TP171P30 EY006360G0701386SEE 003GUP150161479/80NIHR301696G1002570DuBois LCampillo LCCarbonelli MJurkute NCascavilla MLBiousse VBattista MHage RHussain RCalcagno FLeruez SSadun APina ALHON REALITY Study GroupTaiel MDeBusk AAForoozan RDi Vito LCestari DMKaranjia RBlouin LSahel JABandello FMClermont CVGarcia VMorilla ALa Morgia CYu-Wai-Man PJorany RBarboni PHeilweil GCarelli VMassini MMoster MLRomagnoli MSheel PNewman NJTsui IfalseNatural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.<h4>Background/objectives</h4>REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).<h4>Subjects/methods</h4>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.<h4>Results</h4>44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutati2022-01-01T00:00:00Z2022 Apr2026-05-09T19:21:22.788Z2025-04-06T04:00:50.92ZS-EPMC89565803391121310.1038/s41433-021-01535-9