Abstract
Leber’s 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’ 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.
Highlights
Leber’s hereditary optic neuropathy (LHON) is one of the most frequent mitochondrial diseases of the optic nerve [1], characterized by maternally inherited genetic disorder, with young male predilection and loss of central vision, which is almost always bilateral and severe [2,3]
Anatomical changes observed in the LHON patients were consistent with the clinical picture of the disease
Twenty-five patients with LHON were selected from a national health database
Summary
Leber’s hereditary optic neuropathy (LHON) is one of the most frequent mitochondrial diseases of the optic nerve [1], characterized by maternally inherited genetic disorder, with young male predilection and loss of central vision, which is almost always bilateral and severe [2,3]. Changes in LHON show retinal ganglion cell degeneration with the axonal loss of the optic nerve and the thickening of the retinal nerve fiber layer (RNFL) [7]. These changes result in a decline in visual acuity (VA), permanent central scotoma and optic nerve atrophy. Studies have reported atrophy and increased T2-weighted signal intensity in the optic nerves [13,14], structural damage of the visual cortex and retinofugal pathway, which could be related to axonal degeneration secondary to the loss of retinal ganglion cells [15,16]
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