{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T00:56:08Z","timestamp":1768265768071,"version":"3.49.0"},"reference-count":51,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T00:00:00Z","timestamp":1591660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010621","name":"Medical University of Lublin","doi-asserted-by":"publisher","award":["MNds231"],"award-info":[{"award-number":["MNds231"]}],"id":[{"id":"10.13039\/501100010621","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Leber\u2019s hereditary optic neuropathy (LHON) is one of the mitochondrial diseases that causes loss of central vision, progressive impairment and subsequent degeneration of retinal ganglion cells (RGCs). In recent years, diffusion tensor imaging (DTI) studies have revealed structural abnormalities in visual white matter tracts, such as the optic tract, and optic radiation. However, it is still unclear if the disease alters only some parts of the white matter architecture or whether the changes also affect other subcortical areas of the brain. This study aimed to improve our understanding of morphometric changes in subcortical brain areas and their associations with the clinical picture in LHON by the application of a submillimeter surface-based analysis approach to the ultra-high-field 7T magnetic resonance imaging data. To meet these goals, fifteen LHON patients and fifteen age-matched healthy subjects were examined. For all individuals, quantitative analysis of the morphometric results was performed. Furthermore, morphometric characteristics which differentiated the groups were correlated with variables covering selected aspects of the LHON clinical picture. Compared to healthy controls (HC), LHON carriers showed significantly lower volume of both palladiums (left p = 0.023; right p = 0.018), the right accumbens area (p = 0.007) and the optic chiasm (p = 0.014). Additionally, LHON patients have significantly higher volume of both lateral ventricles (left p = 0.034; right p = 0.02), both temporal horns of the lateral ventricles (left p = 0.016; right p = 0.034), 3rd ventricle (p = 0.012) and 4th ventricle (p = 0.002). Correlation between volumetric results and clinical data showed that volume of both right and left lateral ventricles significantly and positively correlated with the duration of the illness (left R = 0.841, p = 0.002; right R = 0.755, p = 0.001) and the age of the LHON participants (left R = 0.656, p = 0.007; right R = 0.691, p = 0.004). The abnormalities in volume of the LHON patients\u2019 subcortical structures indicate that the disease can cause changes not only in the white matter areas constituting visual tracts, but also in the other subcortical brain structures. Furthermore, the correlation between those results and the illness duration suggests that the disease might have a neurodegenerative nature; however, to fully confirm this observation, longitudinal studies should be conducted.<\/jats:p>","DOI":"10.3390\/brainsci10060359","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T08:49:11Z","timestamp":1591692551000},"page":"359","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Neuroanatomical Changes in Leber\u2019s Hereditary Optic Neuropathy: Clinical Application of 7T MRI Submillimeter Morphometry"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9975-1458","authenticated-orcid":false,"given":"Kamil","family":"Jonak","sequence":"first","affiliation":[{"name":"Department of Biomedical Engineering, Lublin University of Technology, 20-618 Lublin, Poland"},{"name":"Department of Psychiatry, Psychotherapy and Early Intervention, Medical University of Lublin, 20-439 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9497-2713","authenticated-orcid":false,"given":"Pawe\u0142","family":"Krukow","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuropsychiatry, Medical University of Lublin, 20-439 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Symms","sequence":"additional","affiliation":[{"name":"GE Healthcare, Amersham Place, Amersham HP7 9NA, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryszard","family":"Maciejewski","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Medical University of Lublin, 20-400 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2938-885X","authenticated-orcid":false,"given":"Cezary","family":"Grochowski","sequence":"additional","affiliation":[{"name":"Laboratory of Virtual Man, Medical University of Lublin, 20-400 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,6,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber\u2019s hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","article-title":"The clinical characteristics of pedigrees of Leber\u2019s hereditary optic neuropathy with the 11778 mutation","volume":"111","author":"Newman","year":"1991","journal-title":"Am. 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