Am J Hum Genet 2021 Oct 12. Epub 2021 Oct 12.
School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, 7005 TAS, Australia; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, 2 Verdun Street, Nedlands, 6009 WA, Australia. Electronic address:
We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision loss among different LHON mutations, sex, age at onset, and mitochondrial haplogroup. We identified 96 genetically unrelated LHON pedigrees, including 56 unpublished pedigrees, and updated 40 previously known pedigrees, comprising 620 affected individuals and 4,948 asymptomatic carriers. The minimum prevalence of vision loss due to LHON in Australia in 2020 was one in 68,403 individuals. Read More