scholarly journals Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Katarzyna Nowomiejska ◽  
Agnieszka Kiszka ◽  
Edyta Koman-Wierdak ◽  
Katarzyna Tonska ◽  
Ryszard Maciejewski ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Optic Neuropathy ◽  
Automated Perimetry ◽  
Central Scotoma ◽  
Leber Hereditary Optic Neuropathy ◽  
Kinetic Perimetry ◽  
Central Island ◽  
The Mean ◽  
Hereditary Optic Neuropathy

Purpose. To analyse visual field (VF) defects obtained using semiautomated kinetic perimetry (SKP) in patients suffering from Leber hereditary optic neuropathy (LHON). Methods. Twenty-two eyes of eleven consecutive LHON male patients with confirmed mitochondrial 11778G>A DNA mutation were prospectively examined with the V4e stimulus of SKP in both eyes. The mean time after the onset of LHON was one year. The area of obtained isopters was measured in square degrees (deg2). Additionally, static automated perimetry (SAP) within 30° was performed. Results. Visual acuity ranged from counting fingers to 50 cm to 0.4. VFs obtained with SKP showed central scotomas in 18 eyes (82%); the periphery of the VF in these eyes remained intact. The mean area of central scotoma was 408.8 deg2, and the mean area of the peripheral VF was 12291.1 deg2; SAP also revealed central scotoma in these patients. In four eyes (18%) with the worst visual acuity, only the residual central island of VF was found using SKP (mean area 898.4 deg2). SAP was difficult to obtain in these patients. Conclusions. SKP provides additional clinical information in regard to the visual function of LHON patients. SKP enables the quantification of the area of central scotoma, preserved peripheral VF, and residual central island of vision. Using V4 stimulus is especially useful in LHON patients with poor visual acuity, when SAP is difficult to obtain.

Leber Hereditary Optic Neuropathy - Idebenone, Hope of Treatment

2020 ◽  
Vol 70 (12) ◽  
pp. 4244-4247
Keyword(s):  
Mitochondrial Dna ◽  
Visual Field ◽  
Optic Neuropathy ◽  
Mitochondrial Function ◽  
Dna Analysis ◽  
Central Vision ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Analysis ◽  
Hereditary Optic Neuropathy

Leber hereditary optical neuropathy (LHON) is part of the class of optic neuropathies in which the mitochondrial function is impaired and is characterized by a painless, subacute, bilateral decrease of the central vision. We shall present the case of two brothers AM aged 31 and AT aged 40 who were diagnosed with LHON and whom we initiated treatment with idebenone 900 mg / day with monitoring at one month and 6 months. The mitochondrial DNA analysis demonstrated the existence of mutations 11778G>A for the mtND4 gene in both patients. Idebenone is a synthetic benzoquinone, analogue of ubiquinone. We found a slight but significant improvement in the visual field in patient AM at one month of treatment. We have not found another case in the literature with an improvement in vision so fast after this treatment, and this has led us to write this article. Keywords: Leber hereditary optical neuropathy (LHON), idebenone, mutations 11778G>A, mtND4 gene

Contrast Sensitivity and Visual-Field Thresholds in Patients with Thyroid Optic Neuropathy

Perception ◽  
1997 ◽  
Vol 26 (1_suppl) ◽  
pp. 194-194
Author(s):  
J Jankauskiene ◽  
R Lukauskiene ◽  
B Mickiene
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Contrast Sensitivity ◽  
Optic Neuropathy ◽  
Control Group ◽  
Ophthalmological Examination ◽  
Threshold Test ◽  
Spatial Frequencies ◽  
Snellen Visual Acuity ◽  
The Mean

Thyroid optic neuropathy is one of the most troubling complications of endocrine ophthalmopathies. It is related to the degree of extraocular muscle swelling in the apex of the orbit. The purpose of this study was to investigate contrast sensitivity and visual-field thresholds in patients with thyroid optic neuropathy. We examined twenty-two patients aged 29 – 63 years (mean 45.3 years). The control group consisted of fifteen healthy persons of similar age. Contrast sensitivity was measured by means of Volkov's charts (sinusoidal gratings) at eight spatial frequencies from 17.5 to 0.46 cycles deg−1. The visual field was investigated with a static automatic perimeter (Allgan Humphrey Field Analyzer) by means of the central 30-2 threshold test. All patients underwent a complete ophthalmological examination including best corrected Snellen visual acuity, fundus copy, and proptosis measurement with the Hertel exophthalmometer. The mean proptosis of patients was 19.4 mm. Fifteen of the patients had decreased visual acuity. Contrast sensitivity at low spatial frequencies was significantly reduced in the patients. It was established that a reduction of visual-field threshold accompanies the decrease of visual acuity. Our results show that contrast sensitivity and visual-field threshold testing are very sensitive at detecting early optic neuropathy and may be a useful means of following patients after treatment.

Progression of Visual Field Defects in Leber Hereditary Optic Neuropathy: Experience of the LHON Treatment Trial

2006 ◽  
Vol 141 (6) ◽  
pp. 1061-1067.e1 ◽  
Author(s):  
Nancy J. Newman ◽  
Valérie Biousse ◽  
Steven A. Newman ◽  
M. Tariq Bhatti ◽  
Steven R. Hamilton ◽  
...  
Keyword(s):  
Visual Field ◽  
Optic Neuropathy ◽  
Visual Field Defects ◽  
Treatment Trial ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy ◽  
Field Defects

scholarly journals Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison

2021 ◽  
Vol 12 ◽  
Author(s):  
Nancy J. Newman ◽  
Patrick Yu-Wai-Man ◽  
Valerio Carelli ◽  
Valerie Biousse ◽  
Mark L. Moster ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Visual Acuity ◽  
Natural History ◽  
Optic Neuropathy ◽  
Linear Mixed Model ◽  
Vision Loss ◽  
Indirect Comparison ◽  
External Control ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Objective: This work aimed to compare the evolution of visual outcomes in Leber hereditary optic neuropathy (LHON) patients treated with intravitreal gene therapy to the spontaneous evolution in prior natural history (NH) studies.Design: A combined analysis of two phase three randomized, double-masked, sham-controlled studies (REVERSE and RESCUE) and their joint long-term extension trial (CLIN06) evaluated the efficacy of rAAV2/2-ND4 vs. 11 pooled NH studies used as an external control.Subjects: The LHON subjects carried the m.11778G>A ND4 mutation and were aged ≥15 years at onset of vision loss.Methods: A total of 76 subjects received a single intravitreal rAAV2/2-ND4 injection in one eye and sham injection in the fellow eye within 1 year after vision loss in REVERSE and RESCUE. Both eyes were considered as treated due to the rAAV2/2-ND4 treatment efficacy observed in the contralateral eyes. Best corrected visual acuity (BCVA) from REVERSE, RESCUE, and CLIN06 up to 4.3 years after vision loss was compared to the visual acuity of 208 NH subjects matched for age and ND4 genotype. The NH subjects were from a LHON registry (REALITY) and from 10 NH studies. A locally estimated scatterplot smoothing (LOESS), non-parametric, local regression model was used to modelize visual acuity curves over time, and linear mixed model was used for statistical inferences.Main Outcome Measures: The main outcome measure was evolution of visual acuity from 12 months after vision loss, when REVERSE and RESCUE patients had been treated with rAAV2/2-ND4.Results: The LOESS curves showed that the BCVA of the treated patients progressively improved from month 12 to 52 after vision loss. At month 48, there was a statistically and clinically relevant difference in visual acuity of −0.33 logarithm of the minimal angle of resolution (LogMAR) (16.5 ETDRS letters equivalent) in favor of treated eyes vs. NH eyes (p < 0.01). Most treated eyes (88.7%) were on-chart at month 48 as compared to 48.1% of the NH eyes (p < 0.01). The treatment effect at last observation remained statistically and clinically significant when adjusted for age and duration of follow-up (−0.32 LogMAR, p < 0.0001).Conclusions: The m.11778G>A LHON patients treated with rAAV2/2-ND4 exhibited an improvement of visual acuity over more than 4 years after vision loss to a degree not demonstrated in NH studies.Clinical Trial Registration: NCT02652767, NCT02652780, NCT03406104, and NCT03295071.

scholarly journals What are the characteristics and progression of visual field defects in patients with Leber hereditary optic neuropathy: a prospective single-centre study in China

BMJ Open ◽  
2019 ◽  
Vol 9 (3) ◽  
pp. e025307
Author(s):  
Hong-Li Liu ◽  
Jia-Jia Yuan ◽  
Zhen Tian ◽  
Xin Li ◽  
Lin Song ◽  
...  
Keyword(s):  
Visual Field ◽  
Optic Neuropathy ◽  
Visual Function ◽  
Visual Field Defect ◽  
Visual Field Defects ◽  
Leber Hereditary Optic Neuropathy ◽  
The Difference ◽  
Field Defect ◽  
Hereditary Optic Neuropathy ◽  
Field Defects

ObjectiveTo study the characteristics and progression of visual field defects in patients with Leber hereditary optic neuropathy.DesignProspective study.Setting3-A-class hospital in China; single-centre study.ParticipantsFrom 100 patients diagnosed with Leber hereditary optic neuropathy, 80 (160 eyes; 68 men and 12 women; youngest patient, 6 years; oldest patient, 35 years) were recruited.ExposureAll patients were followed up for at least 12 months. Each patient underwent at least three visual field examinations. Patient groups 1–6 were created according to the time of visual field data acquisition. Patient group 7 included patients with a different onset of disease between eyes. Group 8 was composed of patients with a course of disease of 12–24 months when one of the examinations performed. Patients who performed the third examination made up patient group 9.Primary outcome measuresPrevalence of the different visual field defect types on the basis of severity in groups 1–6. Mean of the difference of visual function between eyes in group 7.ResultIn groups 1–6, the prevalences of defects classified using Visual Field Index values were significantly different between groups 1 and 3. In group 7, with the prolongation of the course of the disease, the mean of the difference of visual function between eyes decreased. There was no significant correlation between age and the severity of visual field defect. There was significant correlation between visual acuity and the severity of visual field defect.ConclusionVisual field defects in patients with Leber hereditary optic neuropathy (G11778A) may continuously progress within 6 months of disease development, and remain stable after 9 months. With the progression of the disease, the differences in visual function between eyes may decrease. The severity of visual field defect seems to be independent of age; however, could be related to visual acuity.Trial registration numberNCT03428178,NCT01267422.

scholarly journals Leber hereditary optic neuropathy following head trauma and ocular trauma on contralateral eye: a case report

2020 ◽  
Author(s):  
Hoon Dong Kim
Keyword(s):  
Visual Acuity ◽  
Optic Neuropathy ◽  
Dna Analysis ◽  
Ocular Trauma ◽  
Leber Hereditary Optic Neuropathy ◽  
Fellow Eye ◽  
Orbital Wall ◽  
Contralateral Eye ◽  
The Right ◽  
Hereditary Optic Neuropathy

Abstract Purpose To present a case of activation of Leber hereditary optic neuropathy (LHON) following head and ocular trauma of the fellow eye in the patient with no remarkable symptoms and normal visual acuity prior to trauma. Case summary A 31-year-old healthy man was referred to our hospital after a traffic accident. He had blowout fractures of medial and inferior orbital wall of the left eye, subcutaneous hematoma of the left forehead, and bony fragment that compressed the left optic nerve. Initially, best-corrected visual acuity (BCVA) was 20/20 in the right and 20/1000 in the left eyes. Relative afferent pupillary defect of the left eye was apparent, and fundus examination revealed choroidal rupture circumferentially crossing the macular area. Nine months later, the patient complained with gradual vision loss in the right eye, which was the contralateral eye of the ocular trauma. BCVA was 20/200, and perimetry revealed cecocentral scotoma in the right eye. BCVA in both eyes reduced to 20/2000 1 year post-trauma. Visual evoked potentials revealed markedly decreased in amplitudes and elongated latencies for both eyes. Mitochondrial DNA analysis revealed a G11778A mutation; therefore, a diagnosis of activation of LHON followed by trauma was made for the previously unaffected carrier. Conclusions This is a case in which activation of LHON occurred in a healthy carrier following head and ocular trauma of the fellow eye. This observation suggests the possibility that LHON activation in healthy carriers may occur in patients who experience head or ocular trauma even in the fellow eye.

scholarly journals Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Dekang Gan ◽  
Mengwei Li ◽  
Jihong Wu ◽  
Xinghuai Sun ◽  
Guohong Tian
Keyword(s):  
Optic Neuropathy ◽  
Spastic Paraplegia ◽  
Retrospective Case ◽  
Leber Hereditary Optic Neuropathy ◽  
Gene Test ◽  
The Mean ◽  
Retrospective Case Study ◽  
Hereditary Optic Neuropathy ◽  
Sd Oct

Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study. Patients diagnosed with hereditary optic neuropathy between January 2014 and December 2015 in the neuro-ophthalmology division in Shanghai Eye and ENT Hospital of Fudan University were recruited. Clinical features as well as visual field, brain/orbital MRI, and spectrum domain optical coherence tomography (SD-OCT) were analyzed. Results. Eighty-two patients diagnosed by gene test were evaluated, including 66 males and 16 females. The mean age of the patients was 19.4 years (range, 5–46 years). A total of 158 eyes were analyzed, including 6 unilateral, 61 bilateral, and 15 sequential. The median duration of the disease was 0.5 year (range, 0.1–20 years). Genetic test identified 68 patients with Leber hereditary optic neuropathy, 9 with dominant optic neuropathy, and 2 with a Wolfram gene mutation. There was also one case of hereditary spastic paraplegia, spinocerebellar ataxia, and polymicrogyria with optic nerve atrophy, respectively. Conclusion. Leber hereditary optic neuropathy is the most common detected type of hereditary optic neuropathy in Shanghai, China. The detection of other autosomal mutations in hereditary optic neuropathy is limited by the currently available technique.

scholarly journals Protocol to test the efficacy and safety of frequent applications of skin electrical stimulation for Leber hereditary optic neuropathy: a single-arm, open-label, non-randomised prospective study

BMJ Open ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. e048814
Author(s):  
Kaori Ueda ◽  
Takuji Kurimoto ◽  
Fumio Takano ◽  
Yusuke Murai ◽  
Sotaro Mori ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Electrical Stimulation ◽  
Optic Neuropathy ◽  
Ethics Committee ◽  
Secondary Outcome ◽  
Specular Microscopy ◽  
Open Label ◽  
Leber Hereditary Optic Neuropathy ◽  
G11778a Mutation ◽  
Hereditary Optic Neuropathy

IntroductionLeber hereditary optic neuropathy (LHON) is an acute or subacute inherited optic neuropathy caused by mitochondrial mutations. More than 90% of patients with LHON have one of three point mutations (ie, G3460A, G11778A and T14484C). We previously reported that a 12-week session of skin electrical stimulation (SES) with a 2-week interval significantly improved visual acuity and field tests 1 week after the last stimulation and without adverse effects in 10 cases of LHON carrying the mt DNA G11778A mutation. In the present study, we will examine the magnitude and persistence of the efficacy and presence or absence of adverse events using SES with a more frequent stimulation protocol.Methods and analysisThis study will be a single-arm, open-labelled, non-randomised clinical study that analyses 15 cases of LHON with G11778A mutation. All participants will take a portable SES device home and perform SES by themselves every other day for 12 weeks. The logarithm for the minimum angle of resolution (logMAR) best-corrected visual acuity (BCVA) at 1 week after the last SES will be measured as the primary outcome. LogMAR BCVA will be measured at four and 8 weeks after the last SES treatment. The Humphrey visual field sensitivity test using size V stimulation and critical fusion frequency at 1, 4 and 8 weeks after the last SES session will be secondary outcome measurements. Slit-lamp examination, optical coherence tomography and specular microscopy will also be performed to verify the safety of SES.Ethics and disseminationThe protocol was approved by the Institutional Review Board at Kobe University, Japan (Approval No.C190030). This study is in progress and deserves Pre-result. All documents communicating with the ethics committee will be reposited by the researcher. Modifications to the protocol will be reviewed by the ethics committee and implemented after approval. Data monitoring will be performed by a researcher who is not involved in the study every 6 months after approval. The research summary results will be registered in the Japan Registry of Clinical Trials (jRCTs) and made available to participants in accordance with the terms described in the documents. In addition, the results of this study will be presented at domestic and international meetings and published in peer-reviewed journals within a year after data is fixed.Trial registration numberjRCTs052200033.

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