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

Autor: Yu-Wai-Man P., Newman N. J., Carelli V., La Morgia C., Biousse V., Bandello F. M., Clermont C. V., Campillo L. C., Leruez S., Moster M. L., Cestari D. M., Foroozan R., Sadun A., Karanjia R., Jurkute N., Blouin L., Taiel M., Sahel J. -A., Hussain R., Jorany R., Sheel P., DuBois L., Carbonelli M., Di Vito L., Romagnoli M., DeBusk A. A., Massini M., Hage R., Heilweil G., Tsui I., Garcia V., Morilla A., Barboni P., Cascavilla M. L., Battista M., Calcagno F., Pina A.
Přispěvatelé: University of Cambridge [UK] (CAM), Cambridge University Hospitals - NHS (CUH), Institute of Ophthalmology [London], University College of London [London] (UCL), Emory University School of Medicine, Emory University [Atlanta, GA], Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Bologna, Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Jefferson (Philadelphia University + Thomas Jefferson University), David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, University of Ottawa [Ottawa], Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Institut Hospitalo-Universitaire FOReSIGHT, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-Sorbonne Université (SU), Yu-Wai-Man P., Newman N.J., Carelli V., La Morgia C., Biousse V., Bandello F.M., Clermont C.V., Campillo L.C., Leruez S., Moster M.L., Cestari D.M., Foroozan R., Sadun A., Karanjia R., Jurkute N., Blouin L., Taiel M., Sahel J.-A., Hussain R., Jorany R., Sheel P., DuBois L., Carbonelli M., Di Vito L., Romagnoli M., DeBusk A.A., Massini M., Hage R., Heilweil G., Tsui I., Garcia V., Morilla A., Barboni P., Cascavilla M.L., Battista M., Calcagno F., Pina A., University of Bologna/Università di Bologna, University of California (UC)-University of California (UC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Gestionnaire, Hal Sorbonne Université
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Eye
Eye, Nature Publishing Group: Open Access Hybrid Model Option B, 2021, ⟨10.1038/s41433-021-01535-9⟩
Eye, 2021, ⟨10.1038/s41433-021-01535-9⟩
ISSN: 0950-222X
0078-5334
Popis: 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>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. Conclusions Amongst 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.
Databáze: OpenAIRE
Externí odkaz: