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Lookup NU author(s): Professor Bobby McFarlandORCiD, Professor Robert TaylorORCiD
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© 2026 Elsevier Ltd.Mitochondrial diseases are the most common group of inherited neurometabolic disorders and frequently involve multiple organ systems with high energy demands. Ophthalmic manifestations are a common occurrence in affected individuals and may be the earliest or predominant clinical feature. However, the marked clinical heterogeneity of mitochondrial eye disease often delays recognition and therefore diagnosis. Mitochondria play a central role in cellular metabolism through the process of oxidative phosphorylation. Genetic mutations in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) can impair this key metabolic process leading to clinical disease. Diagnosing such mitochondrial diseases is however often complicated – the same genetic change can result in different symptoms (variable expressivity); different genes can cause similar conditions (allelic and locus heterogeneity); a single genetic change may affect multiple body systems (pleiotropy); and the proportion of affected mitochondrial DNA molecules can vary between tissues (mtDNA heteroplasmy). While the diagnostic process will certainly be influenced by the initial clinical presentation, perhaps more important is clinician awareness and early consideration of an underlying mitochondrial disorder. Early and accurate molecular genetic diagnosis is both available and essential, not only for prognostication and management, but also for reproductive counselling, access to appropriate clinical trials, cascade testing of relevant family members and consideration of emerging mitochondrial therapeutics (McFarland et al., 2025; Hyslop et al., 2025). In this review, we summarise the biochemical and genetic foundations of mitochondrial eye disease, describe the spectrum of clinical phenotypes, outline diagnostic approaches and considerations, and highlight the importance of precise early diagnosis in guiding management and reproductive decision-making.
Author(s): Baxter MF, Borchert GA, Blakely EL, Ruan CW, MacLaren RE, McFarland R, Taylor RW
Publication type: Article
Publication status: Published
Journal: Progress in Retinal and Eye Research
Year: 2026
Volume: 112
Print publication date: 01/05/2026
Online publication date: 03/04/2026
Acceptance date: 01/04/2026
ISSN (print): 1350-9462
ISSN (electronic): 1873-1635
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.preteyeres.2026.101466
DOI: 10.1016/j.preteyeres.2026.101466
PubMed id: 41936865
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