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Challenges in providing genetic counselling for LHON include its mitochondrial inheritance pattern, different haplogroups, incomplete penetrance and that it predominantly affects males. Accurate genetic counselling aims to avoid incorrect disease\u2010risk assessment and delays in either diagnosis or implementation of psychosocial support. Families are also empowered to make autonomous health decisions regarding potential trigger factors for LHON vision loss and informed reproductive choices. Using clinical vignettes, this review demonstrates that an increased awareness of LHON amongst eye care, general and genetic health professionals can address challenges and misconceptions.<\/jats:p>","DOI":"10.1111\/ceo.14493","type":"journal-article","created":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T07:20:11Z","timestamp":1738567211000},"page":"292-301","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices"],"prefix":"10.1111","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9432-4054","authenticated-orcid":false,"given":"Lisa S.","family":"Kearns","sequence":"first","affiliation":[{"name":"Centre for Eye Research Australia Royal Victorian Eye and Ear Hospital  East Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3131-9359","authenticated-orcid":false,"given":"Sandra E.","family":"Staffieri","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia Royal Victorian Eye and Ear Hospital  East Melbourne Victoria Australia"},{"name":"Ophthalmology, Department of Surgery University of Melbourne  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7914-4709","authenticated-orcid":false,"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia Royal Victorian Eye and Ear Hospital  East Melbourne Victoria Australia"},{"name":"Ophthalmology, Department of Surgery University of Melbourne  Parkville Victoria Australia"},{"name":"Centre for Ophthalmology and Visual Science, Lions Eye Institute University of Western Australia  Nedlands Western Australia Australia"},{"name":"School of Medicine, Menzies Institute for Medical Research University of Tasmania  Hobart Tasmania Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2005.03.017"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-022-01246-y"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.651639"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/346066"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-18306"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201828"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02478-4"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.09.015"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1001779"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dys107"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.11.014"},{"issue":"2","key":"e_1_2_10_13_1","first-page":"481","article-title":"Primary Pathogenic mtDNA Mutations in Multigeneration Pedigrees With Leber Hereditary Optic Neuropathy","volume":"59","author":"Mackey D. 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