Journal article

Establishing risk of vision loss in Leber hereditary optic neuropathy

M Isabel G Lopez Sanchez, Lisa S Kearns, Sandra E Staffieri, Linda Clarke, Myra B McGuinness, Wafaa Meteoukki, Sona Samuel, Jonathan B Ruddle, Celia Chen, Clare L Fraser, John Harrison, Alex W Hewitt, Neil Howell, David A Mackey



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 We identified 96 genetically unrelated LHON pedigrees, including 56 unpublished pedigrees, and updated 40 previously known pedigrees, comprising 620 affected individuals and 4,948 asymptomatic carriers.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. Although our data confirm some well-established features of LHON, the overall risk of vision loss among those with a LHON mutation was lower than repor..

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Awarded by Australia's National Health and Medical Research Council

Funding Acknowledgements

We thank and acknowledge the referring clinicians and all the Australian LHON families who participated in this work, including the LHON Facebook support group, and Maree Ring for her extensive genealogical work with LHON pedigrees over three decades. We acknowledge the financial support provided by the Ophthalmic Research Institute of Australia, the Mito Foundation, and Australia's National Health and Medical Research Council (1116360 and 1023911). TheCentre for Eye ResearchAustralia (CERA) receives Operational Infrastructure Support fromtheVictorianGovernment.