The epidemiology and mutation types of Leber’s hereditary optic neuropathy in Thailand
Issued Date
2022-01-01
Resource Type
ISSN
07853890
eISSN
13652060
Scopus ID
2-s2.0-85131914086
Pubmed ID
35723074
Journal Title
Annals of Medicine
Volume
54
Issue
1
Start Page
1601
End Page
1607
Rights Holder(s)
SCOPUS
Bibliographic Citation
Annals of Medicine Vol.54 No.1 (2022) , 1601-1607
Suggested Citation
Sathianvichitr K. The epidemiology and mutation types of Leber’s hereditary optic neuropathy in Thailand. Annals of Medicine Vol.54 No.1 (2022) , 1601-1607. 1607. doi:10.1080/07853890.2022.2082517 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/86517
Title
The epidemiology and mutation types of Leber’s hereditary optic neuropathy in Thailand
Author(s)
Other Contributor(s)
Abstract
Purpose: Leber’s hereditary optic neuropathy (LHON), the most common mitochondrial optic neuropathy, causes visual loss, especially in young adults. Due to the absence of epidemiological data in Southeast Asia, we aimed to determine Thai LHON patients’ characteristics (demographic data, mutation types, and prognoses) as the first study in this region. Methods: This retrospective chart review enrolled all Thai LHON patients confirmed by three mitochondrial DNA mutations (G11778A, T14484C, and G3460A) between January 1997 and December 2016. Patients with more than one year of follow-up were included in a visual progression analysis. The Mann–Whitney U-test was applied to compare groups, and prognosis-associated factors were analysed with the generalized estimating equation. Results: In all, 229 patients were enrolled, with only nineteen females. Most mutations were of the G11778A type (91%), with T14484C accounting for the remainder. The age at onset of G11778A (21.9 years; interquartile range [IQR] 14.9, 33.5) was younger than that of T14484C (33.0 years; IQR 19.4, 37.5). Of 45 patients, the T14484C group demonstrated good vision recovery, whereas the G11778A group did not improve (difference in logMAR −0.7 and IQR −1.5, −0.2 versus logMAR 0.0 and IQR −0.3, 0.2, respectively; P value.001). The G11778A mutation, male, and older age were related to poor prognoses. Conclusions: The leading mutation in Thai LHON patients is the G11778A missense, followed by T14484C, while G3460A was not detected. The vast majority of patients were young adult males. The G11778A mutation, older age, and male gender are associated with poor vision outcomes.Key message The G11778A missense mutation is the most common among Thai LHON patients, followed by T14484C, while G3460A was not found. The G11778A mutation, older age, and male gender are associated with poor vision outcomes.