scholarly journals Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy

Author(s):  
Xiao-Hui Zhang ◽  
Yue Xie ◽  
Quan-Gang Xu ◽  
Kai Cao ◽  
Ke Xu ◽  
...  

Background: Ethambutol-induced optic neuropathy (EON) is a well-recognized ocular complication in patients who take ethambutol as a tuberculosis treatment. The aim of the current study was to investigate the presence of mitochondrial mutations, including OPA1 and Leber’s hereditary optic neuropathy (LHON)-mitochondrial DNA (mtDNA), in patients with EON and to determine their effect on clinical features of these patients.Methods: All 47 patients underwent clinical evaluations, including best-corrected visual acuity, fundus examination, and color fundus photography; 37 patients were then followed up over time. Molecular screening methods, including PCR-based sequencing of the OPA1 gene and LHON-mtDNA mutations, together with targeted exome sequencing, were used to detect mutations.Results: We detected 15 OPA1 mutations in 18 patients and two LHON-mtDNA mutations in four patients, for an overall mutation detection rate of 46.8%. The mean presentation age was significantly younger in the patients with the mitochondrial mutations (27.5 years) than in those without mutations (48 years). Fundus examination revealed a greater prevalence of optic disc hyperemia in the patients with mutations (70.5%) than without mutations (48%). Half of the patients with mutations and 91% of the patients without mutations had improved vision. After adjusting for confounders, the logistic regression revealed that the patients with optic disc pallor on the first visit (p = 0.004) or the patients with the mitochondrial mutations (p < 0.001) had a poorer vision prognosis.Conclusion: Our results indicated that carriers with OPA1 mutations might be more vulnerable for the toxicity of EMB to develop EON.

Rheumatology ◽  
2020 ◽  
Author(s):  
Astrid Kindt ◽  
Keld-Erik Byg ◽  
Jimmi Wied ◽  
Torkell Ellingsen ◽  
Jesper Rømhild Davidsen ◽  
...  

Abstract Objective To evaluate retinal oxygen metabolism by retinal oximetry for ocular and CNS diseases in a cross-sectional study of sarcoidosis. Methods Overall 201 eyes from 103 biopsy-verified sarcoidosis patients were included and divided into four groups depending on the organ affection: (i) sarcoidosis without ocular or CNS affection, (ii) ocular sarcoidosis, (iii) CNS sarcoidosis, and (iv) combined ocular and CNS sarcoidosis. Retinal oximetry was obtained and analysed, with the mean retinal arteriolar and venular saturation as well as arteriovenous difference as principal outcomes. Comparison between groups was done in a multi linear regression model adjusted for age, sex, duration of sarcoidosis, best corrected visual acuity and retinal oximetry quality. Results Mean (s.d.) age was 50.5 (13.4) (95% CI: 47.9, 53.1) years and 52.2% were males. Eyes of the combined Ocular/CNS group had a higher retinal arteriovenous difference than eyes of the Non-ocular/no-CNS group (42.1% vs 37.7%, P = 0.012) but did not differ between other groups. Eyes in the four groups (Non-ocular/no-CNS, Ocular, CNS and Ocular/CNS) did not differ according to retinal arterial (94.5%, 93.5%, 93.5% and 94.5%, respectively) or venular (57.5%, 56.4%, 55.0% and 52.5%, respectively) oxygen saturation. Conclusions The results of this study suggest that eyes of sarcoidosis patients with combined ocular and CNS affection have an altered oxygen metabolism indicating a subclinical eye affection that is not recognized by conventional screening methods.


2019 ◽  
Author(s):  
Jin Mo Ahn ◽  
Sangsoo Kim ◽  
Kwang-Sung Ahn ◽  
Sung-Hoon Cho ◽  
Ungsoo Kim

Abstract Background: This study is to evaluate the accuracy of machine learning for differentiation between optic neuropathies and pseudopapilledema (PPE). Methods: Two hundred and ninety-five images of optic neuropathies, 295 images of PPE, and 779 control images were used. Pseudopapilledema was defined as follows: cases with elevated optic nerve head and blurred disc margin, with normal visual acuity (>0.8 Snellen visual acuity), visual field, color vision, and pupillary reflex. The optic neuropathy group included cases of ischemic optic neuropathy (177), optic neuritis (48), diabetic optic neuropathy (17), papilledema (22), and retinal disorders (31). We compared four machine learning classifiers (our model, GoogleNet Inception v3, 19-layer Very Deep Convolution Network from Visual Geometry group (VGG), and 50-layer Deep Residual Learning (ResNet)). Accuracy and area under receiver operating characteristic curve (AUROC) were analyzed Results: The accuracy of machine learning classifiers ranged from 95.89% to 98.63% (our model: 95.89%, Inception V3: 96.45%, ResNet: 98.63%, and VGG: 96.80%). A high AUROC score was noted in both ResNet and VGG (0.999). Conclusions: Machine learning techniques can be combined with fundus photography as an effective approach to distinguish between PPE and elevated optic disc associated with optic neuropathies. Keywords: Machine Learning; Pseudopapilledema; Optic neuropathy; Optic disc swelling.


Author(s):  
Aylin Garip Kuebler ◽  
Kathrin Halfter ◽  
Lukas Reznicek ◽  
Annemarie Klingenstein ◽  
Siegfried Priglinger ◽  
...  

Abstract Purpose To investigate the sensitivity of the color vision test by Arden in patients with dysthyroid optic neuropathy (DON) to improve diagnosis. Methods In this observational, retrospective study, we included the medical records of 92 eyes (48 patients) with diagnosis of DON between 2008 and 2019 in order to evaluate the full spectrum of findings from the color vision test by Arden, and to determine potential importance of this test. Thirty-five patients were female, and 13 patients were male. The mean age was 58.0 years (range: 34–79) at the time of the DON diagnosis. Results Forty-one eyes displayed relatively good BCVA with ≤ 0.2 LogMAR. We found a protan value exceeding the threshold of ≥ 8% in 57 eyes (30 patients) at the time of the diagnosis. The sensitivity of protan was 61.9% (95% CI 51.2–71.8%), while that of tritan was a striking 98.9% (95% CI 94.1–99.9%). We discovered one pathological sign, tritan deficiency (based on a threshold of ≥ 8%) consistently in all eyes but one at the time of the diagnosis, regardless of the visual field defects or any changes in best-corrected visual acuity (BCVA). Conclusion We found blue-yellow (tritan) deficiency, to be a sensitive and reliable indicator of dysthyroid optic neuropathy. We conclude that, in cases with suspected DON, a color vision test that can detect tritan deficiency is an essential tool for the adequate assessment, diagnosis, and treatment of DON.


2021 ◽  
Author(s):  
Paolo Giuseppe Limoli ◽  
Celeste Limoli ◽  
Enzo Maria Vingolo ◽  
Federica Franzone ◽  
Marcella Nebbioso

Abstract Background Glaucomatous optic neuropathy (GON) is an anatomofunctional impairment of the optic nerve triggered by glaucoma. Recently, growth factors (GF) have been shown to produce retinal neuroenhancement. The suprachoroidal autograft of mesenchymal stem cells (MSC) by Limoli Retinal Restoration Technique (LRRT) has proven to achieve retinal neuroenhancement by producing GF directly into the choroidal space. This retrospectively registered clinical study investigated the visual function changes in patients with GON treated with LRRT. Methods: Twenty-five patients (35 eyes) with GON in progressive disease conditions were included in the study. Each patient underwent a comprehensive ocular examination, including analysis of Best Corrected Visual Acuity (BCVA) for far and near visus, sensitivity by Maia microperimetry, and the study of the spectral domain-optical coherence tomography (SD-OCT). The patients were divided into two groups: a control group, consisting of 21 eyes (average age 72.2 years, range 50–83) and an LRRT group, consisting of 14 eyes (average age 67.4, range 50–84). Results: After 6 months the BCVA, close-up visus, and microperimetric sensitivity significantly improved in the LRRT-treated group (p < 0.05), whereas the mean increases were not statistically significant in controls (p > 0.5). Conclusions: Patients with GON treated with LRRT showed a significant increase of visual performance (VP) both in BCVA and sensitivity and an improvement of residual close-up visus, in the comparison between the LRRT results and the control group. Further studies will be needed to establish the actual significance of the reported findings.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Pranav Shrestha ◽  
Sadhana Sharma ◽  
Ranju Kharel

Purpose. To study the clinical spectrum of Vogt-Koyanagi-Harada (VKH) disease in a tertiary eye center in Nepal. Methods. Baseline demographic details and clinical features of six patients diagnosed as VKH in a tertiary eye center were retrospectively reviewed. Examinations included best corrected visual acuity, intraocular pressure, and slit lamp examination of anterior and posterior segments. Baseline blood investigations, chest X-ray, fundus photography, and fundus fluorescent angiography (FFA) were performed on all the patients. Results. The mean age at presentation was 46 ± 8.43 years with female predominance (83.3%). The disease was complete in 16.7%, incomplete in 16.7%, and probable in 66.7% of the patients. Most cases presented in acute uveitis stage (66.7%). The most common finding in acute cases was serous retinal detachment (66.7%), followed by disc edema (58.3%), whereas in chronic cases, depigmented fundus was the most common. All cases had bilateral presentation. Conclusion. VKH is an important cause of bilateral loss of vision and has a good visual prognosis if aggressive treatment is initiated during the early stages.


2021 ◽  
Author(s):  
Gozde Orman ◽  
Ozlem Aydinoglu-Candan ◽  
Gulten Sungur

Abstract Purpose: The aim of this study was to investigate the prevalance of congenital optic disc (OD) anomalies in Turkey. Methods: The 11149 eyes of 5583 patients were screened for OD anomalies. All patients were underwent a complete ophthalmic examination including best corrected visual acuity, refraction, spherical equivalent, slit lamp biomicroscopy, intraocular pressure measurements, dilated stereoscopic fundus examination. Data analyses were performed by using SPSS for Windows, version 22.0 (SPSS Inc., Chicago, IL, United States).Results: 11149 eyes of 5583 participants were screened. Of the 5583 participants who underwent OD examination, 186 (3,3%) were found to be abnormal. 266 of 11149 (2,38%) eyes were found OD anomalies. 98 (52,7%) were female, 88 (47,3%) were male and the mean of age was 44,05±15,73 years. The prevalence of all congenital OD anomalies was found 3,3%. The tilted disc was the most common anomaly and was found at least one eye in 46 patients (75 eyes) and 0.82% of all screened patients. Peripapillary myelinated nerve fibres was the second common anomaly and was found at least one eye in 29 subjects (35 eyes) and 0,51% of all screened subjects. Peripapillary atrophy was the third common anormality, and was found in at least one eye in 24 patients (37 eyes) and 0,42% of all screened subjects.Conclusion: To our knowledge, this is the first study that the prevalences of all congenital optic disc anomalies from Turkey. The prevalence of congenital optic disc anomalies is higher than in other countries.


2020 ◽  
Vol 6 (2) ◽  
pp. 74-77
Author(s):  
Mohammad Enayet Hussain ◽  
Bithi Debnath ◽  
AFM Al Masum Khan ◽  
Md Ferdous Mian ◽  
Md Nahidul Islam ◽  
...  

Background: The visual evoked potentials (VEP) is a valuable tool to document occult lesions of the central visual channels especially within the optic nerve. Objectives: The purpose of the present study was to observe the findings of first few cases of VEP done in the neurophysiology department of the National Institute of Neurosciences (NINS), Dhaka, Bangladesh. Methodology: This cross-sectional study was conducted in the Department of Neurophysiology at the National Institute of Neurosciences and Hospital, Dhaka, Bangladesh from September 2017 to March 2020. All patients referred to the Neurophysiology Department of NINS for VEP were included. Pattern reversal VEPs were done using standard protocol set by International Federation of Clinical Neurophysiology (IFCN). Results: The mean age of the study population was 30.70 (±12.11) years (6-68 years) with 31 (46.3%) male and 36 (53.7%) female patients. The mean duration of illness was 8.71 (±1.78) months (3 days- 120 months). Most common presenting symptom was blurring of vision (37.3%) and dimness of vision (32.8%). Patterned VEP revealed mixed type (both demyelinating and axonal) of abnormality in most cases [29(43.35)]. The most common clinical diagnosis was multiple sclerosis (29.85%) and optic neuropathy (26.87%). In the clinically suspected cases of multiple sclerosis, optic neuropathy and optic neuritis most of the cases of VEP were abnormal and the p value is 0.04 in optic neuropathy and optic neuritis. Conclusion: The commonest presentation of the patients in this series were blurring of vision and dimness of vision. The most common clinical diagnosis for which VEP was asked for, was optic neuritis and multiple sclerosis. Most abnormalities were of mixed pattern (demyelinating and axonal). Journal of National Institute of Neurosciences Bangladesh, 2020;6(2): 74-77


2021 ◽  
pp. 112067212110237
Author(s):  
Ilkay Kilic Muftuoglu ◽  
Ecem Onder Tokuc ◽  
V Levent Karabas

Purpose: To report outcomes of pars plana vitrectomy (PPV) combined with internal limiting membrane (ILM) stuffing technique in patients with optic disc pit associated maculopathy (ODP-M). Methods: Data including best-corrected visual acuity (BCVA), central macular thickness (CMT), foveal center point thickness (FCP), and maximum height of fluid (max_fluid) (intraretinal or subretinal) were collected from the medical records of the patients. Results: Six eyes of six patients with a mean age of 28.0 ± 17.68 years (range: 9–53 year) underwent PPV + ILM plug surgery. The mean follow-up duration was 25.62 ± 26.11 months (range: 11.80–78.00 month) duration. The mean BCVA increased from 1.25 ± 1.04 logMAR (20/355, Snellen equivalent) to 0.86 ± 1.09 logMAR (20/144, Snellen equivalent) at last follow-up ( p = 0.043). Compared to baseline, CMT, FCP, and max_fluid significantly decreased at all visits after the surgery ( p < 0.05 for all visits). At last follow-up, 66.6% of the eyes (four eyes) showed complete resolution of fluid at a mean of 5.25 ± 4.99 months (range: 1–12 months) after the surgery. Conclusion: PPV with ILM plug seemed to be an effective surgical technique in ODP-M. Studies with longer follow-up and higher number of patients are needed to confirm our results.


2016 ◽  
Vol 236 (2) ◽  
pp. 67-73 ◽  
Author(s):  
Yoshito Koyanagi ◽  
Shigeo Yoshida ◽  
Yoshiyuki Kobayashi ◽  
Yuki Kubo ◽  
Muneo Yamaguchi ◽  
...  

Purpose: To compare the effectiveness of intravitreal ranibizumab (IVR) for diabetic macular edema (DME) between eyes with and without previous vitrectomy. Procedures: We prospectively assessed the best-corrected visual acuity (BCVA) and central macular thickness (CMT) after IVR for 6 months. Results: There were no significant differences in the baseline BCVA and CMT between both groups. In the nonvitrectomized group (n = 15), the mean changes of BCVA and CMT from baseline to month 6 were significant (p < 0.01). In the vitrectomized group (n = 10), the improvement appeared to be slower, and the mean BCVA improvement was not significant (p = 0.5), although the mean CMT decrease was significant (p < 0.05). There were no significant differences in the mean changes of BCVA and CMT between both groups at 6 months. Conclusions: The difference in the effectiveness of IVR between both groups was not significant. IVR can be a treatment option even for vitrectomized DME eyes.


Vision ◽  
2021 ◽  
Vol 5 (3) ◽  
pp. 34
Author(s):  
Ronald M. Sánchez-Ávila ◽  
Edmar Uribe-Badillo ◽  
Carlos Fernández-Vega González ◽  
Francisco Muruzabal ◽  
Borja de la Sen-Corcuera ◽  
...  

This study aimed to investigate the use of Plasma Rich in Growth Factors (PRGF) associated with tissue ReGeneraTing Agent (RGTA) drops for the treatment of noninfectious corneal ulcers. RGTA treatment was applied (one drop every two days); however, if ulcer closure was not achieved, PRGF eye drops treatment was added (four times/day). The time taken to reach the ulcer closure, the Best Corrected Visual Acuity (BCVA), intraocular pressure (IOP), Visual Analog Scale (VAS, in terms of frequency and severity of symptoms), and Ocular Surface Disease Index (OSDI) were evaluated. Seventy-four patients (79 eyes) were included, and the mean age was 56.8 ± 17.3 years. The neurotrophic corneal ulcer was the most frequent disorder (n = 27, 34.2%), mainly for herpes virus (n = 15, 19.0%). The time of PRGF eye drops treatment associated with the RGTA matrix was 4.2 ± 2.2 (1.5–9.0) months, and the follow-up period was 44.9 ± 31.5 months. The ulcer closure was achieved in 76 eyes (96.2%). BCVA, VAS and OSDI improved from the baseline (p < 0.001), and IOP remained unchanged (p = 0.665). RGTA and PRGF in noninfectious ulcers were effective and could be a therapeutic alternative for this type of corneal disease.


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