The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy

Majander, Anna; Robson, Anthony G.; João, Catarina; Holder, Graham E.; Chinnery, Patrick F.; Moore, Anthony T.; Votruba, Marcela; Stockman, Andrew; Yu‐Wai‐Man, Patrick

doi:10.1016/j.mito.2017.07.006

Cited by 44 publications

(45 citation statements)

References 66 publications

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“…Similar PERG abnormalities, detected in our patients with LHON with 3460/ND1 mutation, were observed by others. 11,12,18,20,21 For the 14484/ND6 mutation, PERG abnormalities found in our present and previous study 12 are in agreement with those observed by others. 20,21 For the PERG abnormalities detected in patients with LHON with 14568/ND6 mutation, the present study represents a original finding because patients with LHON carrying this mutation have not been studied using an electrophysiologic approach.…”

Section: Retinal Ganglion Cell Functional Changes: Pattern Electroretsupporting

confidence: 93%

“…The VEP abnormalities found in our patients with LHON with 3460/ND1 mutation are consistent with those previously observed in our study 12 and in other studies. 18,20,21 In addition, LHON eyes with 14484/ND6 mutation showed abnormal VEP responses similar to that observed in our previous study 12 and that reported by Jarc-Vidmar et al 20 and Majander et al 21 Eyes with LHON with 14568/ND6 were never studied by electrophysiologic methods, and therefore the detected VEP abnormalities represent an original finding.…”

Section: Neural Conduction Along the Visual Pathway Changes: Visual Esupporting

confidence: 89%

“…It is interesting to consider that RGC dysfunction in LHON eyes with 11778/ND4, 3460/ND1, and 14484/ND6 mutations was detected by using this new electrophysiologic approach. 21,47 At 6 and 12 months of follow-up, in the analysis of individual changes, the majority of LHON eyes showed unmodified PERG A. Nevertheless, in each mutation-specific Fig 2).…”

Section: Retinal Ganglion Cell Functional Changes: Pattern Electroretmentioning

confidence: 96%

“…In fact, functional changes have been evaluated by electrophysiologic methods only in few works, reporting isolated cases or in subsets of single mtDNA mutation. [18][19][20][21][22] Therefore, the aim of the present study was to assess, in a large cohort of patients with LHON carrying different mtDNA mutations, possible functional changes in RGCs and their fibers (by PERG recordings) and in visual pathways (by VEP recordings) during 12 months of follow-up in the "chronic phase" of the disease.…”

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confidence: 99%

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Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber’s Hereditary Optic Neuropathy during One Year of Follow-up

Parisi

Ziccardi

Sadun³

et al. 2019

Ophthalmology

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Purpose: To assess changes of retinal ganglion cells (RGCs) and visual pathways' function in patients with Leber's hereditary optic neuropathy (LHON) during 12 months of follow-up of the chronic phase.Design: Retrospective case series. Participants: Twenty-two patients with LHON (mean age, 36.3AE9.3 years) in the "chronic phase" of the disease, providing 42 eyes (LHON group) with different pathogenic mitochondrial DNA mutations (group 11778: 21 eyes; group 3460: 4 eyes; group 14484: 13 eyes; and group 14568: 4 eyes) were enrolled. Twenty-five agesimilar healthy participants, providing 25 eyes, served as controls.Methods: Pattern electroretinogram (PERG) and visual evoked potentials (VEP), in response to 60ʹ and 15ʹ checks visual stimuli, were recorded at baseline in all subjects and after 6 and 12 months of follow-up in patients with LHON. At baseline, in all LHON eyes for each PERG and VEP parameter (amplitude and implicit time), the 95% confidence limit (CL) of testeretest variability was calculated. The PERG and VEP mean values observed in LHON eyes were compared (1-way analysis of variance [ANOVA]) with those of controls. During the follow-up, the PERG and VEP differences observed with respect to baseline were evaluated by ANOVA.Main Outcome Measures: Changes of individual and mean absolute values of 60ʹ and 15ʹ PERG amplitude and VEP amplitude and implicit time at each time point compared with baseline values in the LHON group.Results: At baseline, mean values of PERG and VEP parameters detected in the LHON group were significantly (P < 0.01) different with respect to control values. In the LHON group, at 6 and 12 months of follow-up, the majority of eyes showed unmodified (within 95% CL) PERG and VEP values, and mean absolute values of these measures were not significantly (P > 0.01) different from baseline values.Conclusions: In our untreated patients with chronic LHON, with different specific pathogenic mutations, RGCs and visual pathways function were not significantly modified during 12 months of follow-up. This should be considered in the disease natural history when attempts for treatments are proposed in chronic LHON.

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Section: Retinal Ganglion Cell Functional Changes: Pattern Electroretsupporting

confidence: 93%

Section: Neural Conduction Along the Visual Pathway Changes: Visual Esupporting

confidence: 89%

Section: Retinal Ganglion Cell Functional Changes: Pattern Electroretmentioning

confidence: 96%

mentioning

confidence: 99%

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Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber’s Hereditary Optic Neuropathy during One Year of Follow-up

Parisi

Ziccardi

Sadun³

et al. 2019

Ophthalmology

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“…Studies have examined the possible influence of an X-linked visual loss susceptibility locus, impaired mitochondrial respiratory chain activity, mtDNA heteroplasmy, environmental factors, and autoimmune factors [5,6]. e clinical characteristics of LHON are well documented [7][8][9][10], but fewer studies have compared visual electrophysiology with optical coherence tomography (OCT) of the retinal ganglion cell layer (GCL) and retinal nerve fiber layer (RNFL) in different stages of the disease.…”

Section: Introductionmentioning

confidence: 99%

Electrophysiological and Structural Changes in Chinese Patients with LHON

Wang

Guo

et al. 2020

Journal of Ophthalmology

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Objective. To review retrospectively the electrophysiological and structural changes in 13 Chinese patients with Leber hereditary optic neuropathy (LHON). Methods. 26 eyes of 13 patients with a genetically confirmed diagnosis of LHON were categorized into two groups according to the duration of the disease: group 1 (duration less than 3 months) and group 2 (duration between 3 months and 18 years). Clinical history, comprehensive visual electrophysiology, optical coherence tomography (OCT), and color fundus photography were performed. Results. Fundoscopy showed optic disc hyperemia in group 1 and optic atrophy in group 2. OCT measures of retinal nerve fiber layer (RNFL) thickness around the optic disc and surrounding macula were normal in group 1 but reduced in group 2 (10 of 10 eyes). The thickness of the retinal ganglion cell layer (GCL) plus inner plexiform layer (IPL) surrounding the macula reduced significantly in group 1 and group 2 compared with a healthy control group. Pattern ERG (PERG) P50 amplitude was normal, but the N95/P50 ratio reduced in most of group 1 (4 of 5 eyes) and in all of group 2 (11 eyes). PERG P50 peak time was abnormally short in group 2. Multifocal electroretinography (mfERG) showed subnormal responses associated with ring 1 (the central area) and ring 2 in group 1 and reductions in rings 1, 2, and 3 in group 2. Conclusion. The study highlights differences in retinal structure and function between the acute and chronic stages of LHON in a group of Chinese patients. There is PERG evidence of retinal ganglion cell dysfunction and OCT evidence of GCL + IPL thinning in both groups, but there is additional peripapillary RNFL loss in the chronic stage, associated with more severe RGC dysfunction. There is multifocal ERG evidence of localized macular dysfunction in both acute and chronic groups. The study highlights the importance of comprehensive electrophysiological and structural assessments of the retina in LHON and is pertinent to studies that aim to monitor disease progression or the effects of future therapeutic interventions.

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Psychophysiology and Electrophysiology of the Visual System

Sartucci,

Porciatti

2023

Neuromethods

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The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy

Cited by 44 publications

References 66 publications

Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber’s Hereditary Optic Neuropathy during One Year of Follow-up

Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber’s Hereditary Optic Neuropathy during One Year of Follow-up

Electrophysiological and Structural Changes in Chinese Patients with LHON

Psychophysiology and Electrophysiology of the Visual System

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