Optic nerve swelling and gadolinium contrast enhancement on magnetic resonance imaging in the subacute stage of Leber's hereditary optic neuropathy: A case report

Furuki, Misako; Ohkubo, Takuya; Ota, Katsuya; Ishikawa, Kinya; Yokota, Takanori; Mizusawa, Hidehiro

doi:10.5692/clinicalneurol.52.102

Cited by 6 publications

(6 citation statements)

References 11 publications

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“…In comparison, the ICn segment was less frequently involved in our study. Before 2017, T2 HS in the OCh or OTr was only reported in a few case series ( 13 , 14 , 16 , 20 ). However, Christelle Blanc et al revealed the predominance of an extension from the ON to the OCh in patients with BCVA <1.0 logMAR, without sole involvement of the IO or ICn ( 15 ).…”

Section: Discussionmentioning

confidence: 99%

“…In our study, contrast enhancement in the pregeniculate visual pathway occurred in 35.19% of the afflicted eyes with the TIOVP within 6 months. However, it had only been documented in a few patients with the TIOVP within 3 months ( 12 , 16 , 17 , 20 ). This may indicate that such enhancement did not frequently occur in LHON, and it may be always correlated with the subacute stage.…”

Section: Discussionmentioning

confidence: 99%

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Magnetic Resonance Imaging Findings in the Pregeniculate Visual Pathway in Leber Hereditary Optic Neuropathy

Zhao

Zhang²,

Wang³

2021

Journal of Neuro-Ophthalmology

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Background: Current research has not provided a consistent and qualitative description of MRI features in Leber hereditary optic neuropathy (LHON). Our study aims to investigate the MRI findings in the pregeniculate visual pathway and discuss their clinical significance in LHON. Methods: Orbital MRI was retrospectively analyzed for 53 patients with LHON (101 afflicted eyes) admitted to the Department of Neurology, Beijing Tongren Hospital, Capital Medical University, from 2014 to 2019. We described the imaging abnormalities and discussed their associations with the time interval from the onset of vision loss to the performance of MRI (TIOVP), prevalence of m.11778G>A, and best-corrected visual acuity (BCVA). Results: T2 hyperintense signal (HS) was determined in 82 afflicted eyes, with 34 located in the intraorbital segment (IO) of the optic nerve (ON), 26 in the IO concurrent with intracanalicular segment (ICn), 14 in the IO and ICn concurrent with intracranial segment (ICr) of the ON, 4 in the IO, ICn, and ICr concurrent with optic chiasm (OCh), and 4 in the IO, ICn, ICr, and OCh concurrent with optic tract (OTr). MRI was normal in the remaining 19 afflicted eyes. Among the 6 groups, no statistical differences were found in the TIOVP ( P = 0.071), prevalence of m.11778G>A ( P = 0.234), and BCVA ( P = 0.076). As T2 HS extended, the BCVA gradually decreased. Nineteen of the 54 afflicted eyes revealed contrast enhancement, with the TIOVP ranging from 0.25 to 6 months. Conclusions: T2 HS was common in the pregeniculate visual pathway in LHON. It was not correlated with the prevalence of m.11778G>A and did not benefit in disease staging. As it extended, the BCVA gradually decreased. Contrast enhancement was relatively rare, always occurring in the subacute stage.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Magnetic Resonance Imaging Findings in the Pregeniculate Visual Pathway in Leber Hereditary Optic Neuropathy

Zhao

Zhang²,

Wang³

2021

Journal of Neuro-Ophthalmology

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“…A few relatively small studies have demonstrated T2 HS in the optic nerve and optic chiasm of patients with LHON, with some also having optic chiasmal enlargement. [11][12][13][14][15][16] However, the prevalence and significance of these MRI anomalies remain to be determined, together with the pattern of involvement along different segments of the visual pathway. [11,15]In our cohort, T2 HS was observed in 53% of patients within 3 months of the onset of visual loss, in keeping with Blanc and colleagues who found T2 HS in 68% of 28 patients within one year of disease onset, [17] but lower than the 81% reported by Zhao and colleagues in a study of 53 Chinese patients.…”

Section: Discussionmentioning

confidence: 99%

“…[11][12][13][14][15][16] However, the prevalence and significance of these MRI anomalies remain to be determined, together with the pattern of involvement along different segments of the visual pathway. [11,15]In our cohort, T2 HS was observed in 53% of patients within 3 months of the onset of visual loss, in keeping with Blanc and colleagues who found T2 HS in 68% of 28 patients within one year of disease onset, [17] but lower than the 81% reported by Zhao and colleagues in a study of 53 Chinese patients. [11] These two studies did not find any association between LHON mtDNA mutation subtypes and the frequency of the MRI changes in the pregeniculate visual pathway.…”

Section: Discussionmentioning

confidence: 99%

Neuroimaging changes in the pregeniculate visual pathway and chiasmal enlargement in Leber hereditary optic neuropathy

Xu,

Zhou,

Sun

et al. 2024

Br J Ophthalmol

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PurposeTo describe the pattern of MRI changes in the pregeniculate visual pathway in Leber hereditary optic neuropathy (LHON).MethodThis retrospective observational study enrolled 60 patients with LHON between January 2015 and December 2021. The abnormal MRI features seen in the pregeniculate visual pathway were investigated, and then correlated with the causative mitochondrial DNA (mtDNA) mutation, the distribution of the MRI lesions and the duration of vision loss.ResultThe cohort included 48 (80%) males and 53 (88%) had bilateral vision loss. The median age of onset was 17.0 years (range 4.0–58.0). 28 (47%) patients had the m.11778G>A mutation. 34 (57%) patients had T2 hyperintensity (HS) in the pregeniculate visual pathway and 13 (22%) patients with chiasmal enlargement. 20 patients (71%) carrying the m.11778G>A mutation had T2 HS, significantly more than the 14 patients (44%) with T2 HS in the other LHON mutation groups (p=0.039). Furthermore, significantly more patients in the m.11778G>A group (16 patients (57%)) had T2 HS in optic chiasm (OCh)/optic tract (OTr) than the other LHON mutation groups (7 patients (22%), p=0.005). Optic chiasmal enlargement was more common in patients with vision loss duration <3 months compared with those ≥3 months (p=0.028).ConclusionT2 HS in the pregeniculate visual pathway is a frequent finding in LHON. Signal changes in the OCh/OTr and chiasmal enlargement, in particular within the first 3 months of visual loss, were more commonly seen in patients carrying the m.11778G>A mtDNA mutation, which may be of diagnostic significance.

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“…Optic nerve enhancement on post-contrast MRI images has been demonstrated in some case reports. That suggests that the LHON may have an inflammatory component in its pathogenesis [26].…”

Section: Discussionmentioning

confidence: 99%

Juvenile open-angle Glaucoma associated with Leber’s hereditary optic neuropathy: a case report and literature review

et al. 2018

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BackgroundLeber’s hereditary optic neuropathy (LHON) is a maternally inherited recessive disease rarely complicated with glaucoma. We conducted a clinical and genetic retrospective case series to describe three cases of juvenile open-angle glaucoma (JOAG) and an ND4 m11778G > A mitochondrial DNA (mtDNA) mutation, which is pathognomonic for LHON.Case presentationPatient 1 was a 16-year-old boy diagnosed with bilateral JOAG and high myopia. His intraocular pressure (IOP) was poorly controlled with the use of full topical anti-glaucoma medications. His best-corrected visual acuity (BCVA) decreased gradually over 5 years. Fundoscopic examination revealed bilateral enlarged disc cupping of the optic nerves with sectorial excavation and reduction of the neural rim in the left eye. His visual field (VF) was characterized by bilateral progressive central scotoma. Pattern visual evoked potentials (VEPs) and pattern electroretinograms (ERGs) showed extinguished responses in both eyes. Because of the non-specific visual field findings and the optic neuropathy disclosed by the pattern VEPs and pattern ERGs, we arranged a genetic test for the patient, which revealed an m11778G > A mtDNA mutation. Patient 2, the younger brother of Patient 1, was a 15-year-old boy who had been diagnosed with bilateral JOAG in 2010. The BCVA of both eyes remained at 1.0 during the follow-up period. Fundoscopic examination revealed bilateral mildly paled optic disc with enlarged cupping and reduction of the neural rim. The pattern ERG revealed a decreased N95 amplitude bilaterally. The genetic test revealed an m11778G > A mtDNA mutation. Patient 3 was a 35-year-old man with bilateral JOAG. His BCVA decreased gradually over 10 years. Fundoscopic examination revealed paled optic disc with enlarged disc cupping and reduction of the neural rim in both eyes. The pattern ERG revealed a decreased N95 amplitude bilaterally. The genetic test revealed an m11778G > A mtDNA mutation.ConclusionsThis case series describes three patients with concomitant occurrence of JOAG and LHON. These two diseases may have a cumulative effect on oxidative stress and retinal ganglion cell death with the rapid deterioration of vision, which may occur during adolescence.

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Optic nerve swelling and gadolinium contrast enhancement on magnetic resonance imaging in the subacute stage of Leber's hereditary optic neuropathy: A case report

Cited by 6 publications

References 11 publications

Magnetic Resonance Imaging Findings in the Pregeniculate Visual Pathway in Leber Hereditary Optic Neuropathy

Magnetic Resonance Imaging Findings in the Pregeniculate Visual Pathway in Leber Hereditary Optic Neuropathy

Neuroimaging changes in the pregeniculate visual pathway and chiasmal enlargement in Leber hereditary optic neuropathy

Juvenile open-angle Glaucoma associated with Leber’s hereditary optic neuropathy: a case report and literature review

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