Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.
Authors
Newman, Nancy J
Carelli, Valerio
La Morgia, Chiara
Biousse, Valérie
Bandello, Francesco M
Clermont, Catherine Vignal
Campillo, Lorena Castillo
Leruez, Stephanie
Moster, Mark L
Cestari, Dean M
Foroozan, Rod
Sadun, Alfredo
Karanjia, Rustum
Blouin, Laure
Sahel, José-Alain
LHON REALITY Study Group
Publication Date
2022-04Journal Title
Eye (Lond)
ISSN
0950-222X
Publisher
Springer Science and Business Media LLC
Volume
36
Issue
4
Pages
818-826
Language
en
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Yu-Wai-Man, P., Newman, N. J., Carelli, V., La Morgia, C., Biousse, V., Bandello, F. M., Clermont, C. V., et al. (2022). Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.. Eye (Lond), 36 (4), 818-826. https://doi.org/10.1038/s41433-021-01535-9
Description
Funder: GenSight Biologics
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 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.
Keywords
Article, /692/699/3161/3172, /692/308/174, article
Sponsorship
National Institute for Health Research (IS-BRC-1215-20014)
Identifiers
s41433-021-01535-9, 1535
External DOI: https://doi.org/10.1038/s41433-021-01535-9
This record's URL: https://www.repository.cam.ac.uk/handle/1810/335572
Rights
Licence:
http://creativecommons.org/licenses/by/4.0/
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